ClinVar Miner

List of variants reported as likely pathogenic for not provided by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 731
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HGVS dbSNP gnomAD frequency
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) rs144169073 0.00061
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442 0.00039
NM_002303.6(LEPR):c.1835G>A (p.Arg612His) rs144159890 0.00036
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781 0.00026
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser) rs202037973 0.00024
NM_000371.4(TTR):c.190T>C (p.Phe64Leu) rs138065384 0.00019
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys) rs201299260 0.00019
NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln) rs369697947 0.00018
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019 0.00016
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile) rs199874519 0.00016
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00016
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs) rs886041302 0.00013
NM_000335.5(SCN5A):c.1019G>A (p.Arg340Gln) rs191009474 0.00011
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380 0.00011
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys) rs11546842 0.00011
NM_016630.7(SPG21):c.118C>T (p.Arg40Ter) rs555126484 0.00011
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000388.4(CASR):c.73C>T (p.Arg25Ter) rs201633414 0.00010
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_000070.3(CAPN3):c.2311G>A (p.Ala771Thr) rs886043191 0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_022089.4(ATP13A2):c.477+2T>G rs758014228 0.00009
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu) rs80338694 0.00009
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792 0.00008
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile) rs777685454 0.00006
NM_000414.4(HSD17B4):c.58+190T>A rs1001866915 0.00006
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014 0.00006
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747 0.00006
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) rs121909254 0.00006
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser) rs371019314 0.00006
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln) rs121908185 0.00006
NM_153700.2(STRC):c.4675C>T (p.Gln1559Ter) rs147717802 0.00006
NM_000023.4(SGCA):c.614C>A (p.Pro205His) rs757481230 0.00005
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg) rs539765620 0.00005
NM_001851.6(COL9A1):c.1120G>T (p.Glu374Ter) rs374843706 0.00005
NM_005912.3(MC4R):c.913C>T (p.Arg305Trp) rs549442687 0.00005
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_000079.4(CHRNA1):c.1321G>A (p.Gly441Arg) rs768407867 0.00004
NM_000083.3(CLCN1):c.1167-10T>C rs543120965 0.00004
NM_000083.3(CLCN1):c.2551G>A (p.Val851Met) rs749205522 0.00004
NM_000092.5(COL4A4):c.3743G>A (p.Gly1248Glu) rs548799639 0.00004
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter) rs61753245 0.00004
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys) rs769773673 0.00004
NM_000435.3(NOTCH3):c.1918C>T (p.Arg640Cys) rs760768552 0.00004
NM_000500.9(CYP21A2):c.1226G>A (p.Arg409His) rs1351045983 0.00004
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val) rs140551719 0.00004
NM_002693.3(POLG):c.428C>T (p.Ala143Val) rs796052899 0.00004
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) rs104894293 0.00004
NM_005591.4(MRE11):c.1015A>T (p.Lys339Ter) rs984874083 0.00004
NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs) rs776470487 0.00004
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_024596.5(MCPH1):c.1625T>G (p.Leu542Ter) rs748011724 0.00004
NM_213599.3(ANO5):c.2521C>G (p.His841Asp) rs781027702 0.00004
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro) rs143962150 0.00003
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958 0.00003
NM_000338.3(SLC12A1):c.1522G>A (p.Ala508Thr) rs765347751 0.00003
NM_000352.6(ABCC8):c.2921-9G>A rs757171524 0.00003
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His) rs769279368 0.00003
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter) rs752199191 0.00003
NM_003000.3(SDHB):c.418G>T (p.Val140Phe) rs267607032 0.00003
NM_005677.4(COLQ):c.1321A>G (p.Thr441Ala) rs375215281 0.00003
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp) rs201908721 0.00003
NM_145207.3(AFG2A):c.2T>C (p.Met1Thr) rs765170329 0.00003
NM_000069.3(CACNA1S):c.1582C>T (p.Arg528Cys) rs80338778 0.00002
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg) rs757341933 0.00002
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu) rs1026613471 0.00002
NM_000349.3(STAR):c.745-1G>C rs374297649 0.00002
NM_000486.6(AQP2):c.190G>A (p.Gly64Arg) rs104894326 0.00002
NM_000500.9(CYP21A2):c.922T>G (p.Leu308Val) rs994764994 0.00002
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu) rs780837200 0.00002
NM_001195248.2(APTX):c.124C>T (p.Arg42Ter) rs201912053 0.00002
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059 0.00002
NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter) rs746721983 0.00002
NM_005591.4(MRE11):c.545-1G>A rs1451215042 0.00002
NM_007126.5(VCP):c.572G>A (p.Arg191Gln) rs121909334 0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) rs794726871 0.00001
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln) rs398123143 0.00001
NM_000083.3(CLCN1):c.1064G>A (p.Gly355Glu) rs1282349760 0.00001
NM_000083.3(CLCN1):c.1261C>T (p.Arg421Cys) rs756981034 0.00001
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His) rs780834658 0.00001
NM_000083.3(CLCN1):c.1399A>G (p.Lys467Glu) rs149892539 0.00001
NM_000083.3(CLCN1):c.1401+1G>T rs769861892 0.00001
NM_000083.3(CLCN1):c.592C>G (p.Leu198Val) rs80356685 0.00001
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp) rs746691295 0.00001
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu) rs202179484 0.00001
NM_000091.5(COL4A3):c.3593G>A (p.Gly1198Asp) rs755849032 0.00001
NM_000092.5(COL4A4):c.3317G>A (p.Gly1106Asp) rs1559482299 0.00001
NM_000092.5(COL4A4):c.3734G>T (p.Gly1245Val) rs1189502123 0.00001
NM_000092.5(COL4A4):c.4288G>A (p.Gly1430Arg) rs775926807 0.00001
NM_000100.4(CSTB):c.1_2insAT (p.Met1fs) rs1044894207 0.00001
NM_000161.3(GCH1):c.626+2dup rs1474519447 0.00001
NM_000162.5(GCK):c.605T>C (p.Met202Thr) rs193922311 0.00001
NM_000162.5(GCK):c.787T>C (p.Ser263Pro) rs193922331 0.00001
NM_000162.5(GCK):c.952G>T (p.Gly318Trp) rs193922340 0.00001
NM_000170.3(GLDC):c.1381C>T (p.Arg461Trp) rs761957837 0.00001
NM_000260.4(MYO7A):c.2187+1G>A rs111033290 0.00001
NM_000260.4(MYO7A):c.6356A>G (p.Gln2119Arg) rs1029122324 0.00001
NM_000334.4(SCN4A):c.1333G>C (p.Val445Leu) rs121908552 0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His) rs193922401 0.00001
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn) rs769569410 0.00001
NM_000371.4(TTR):c.239C>T (p.Thr80Ile) rs1254341785 0.00001
NM_000371.4(TTR):c.349G>T (p.Ala117Ser) rs267607161 0.00001
NM_000383.4(AIRE):c.1295_1296insA (p.Arg433fs) rs763695515 0.00001
NM_000388.4(CASR):c.1393C>T (p.Arg465Trp) rs751217000 0.00001
NM_000388.4(CASR):c.1525G>A (p.Gly509Arg) rs193922423 0.00001
NM_000388.4(CASR):c.2039G>A (p.Arg680His) rs773146939 0.00001
NM_000388.4(CASR):c.206G>A (p.Arg69His) rs193922432 0.00001
NM_000388.4(CASR):c.2393C>T (p.Pro798Leu) rs1060502856 0.00001
NM_000388.4(CASR):c.427G>A (p.Gly143Arg) rs769256610 0.00001
NM_000447.3(PSEN2):c.712C>T (p.Leu238Phe) rs367855127 0.00001
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp) rs763159520 0.00001
NM_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp) rs779103938 0.00001
NM_000500.9(CYP21A2):c.919T>G (p.Phe307Val) rs746303150 0.00001
NM_000525.4(KCNJ11):c.100C>T (p.Arg34Cys) rs954727530 0.00001
NM_000525.4(KCNJ11):c.160C>T (p.Arg54Cys) rs375848765 0.00001
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099 0.00001
NM_000530.8(MPZ):c.385G>A (p.Val129Ile) rs201156403 0.00001
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) rs572010627 0.00001
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro) rs756870293 0.00001
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu) rs749673816 0.00001
NM_001008212.2(OPTN):c.1149-2A>G rs867368757 0.00001
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr) rs119462987 0.00001
NM_001126108.2(SLC12A3):c.2660G>A (p.Arg887Gln) rs369360334 0.00001
NM_001127222.2(CACNA1A):c.2105-2A>G rs906086634 0.00001
NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys) rs121908243 0.00001
NM_001130987.2(DYSF):c.1276+5G>A rs766433603 0.00001
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys) rs758993965 0.00001
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) rs746243052 0.00001
NM_001195248.2(APTX):c.593C>T (p.Ala198Val) rs748165574 0.00001
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter) rs772235481 0.00001
NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile) rs121909765 0.00001
NM_001377265.1(MAPT):c.2091+19C>G rs63750162 0.00001
NM_001377265.1(MAPT):c.2341G>A (p.Gly781Arg) rs63750512 0.00001
NM_001540.5(HSPB1):c.523C>T (p.Gln175Ter) rs863225023 0.00001
NM_001845.6(COL4A1):c.518G>A (p.Gly173Asp) rs567124920 0.00001
NM_002087.4(GRN):c.1010_1011del (p.Gln337fs) rs1598364961 0.00001
NM_002693.3(POLG):c.2897T>G (p.Leu966Arg) rs142347031 0.00001
NM_002739.5(PRKCG):c.1764+1G>T rs1406338491 0.00001
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser) rs786201095 0.00001
NM_003119.4(SPG7):c.376+1G>T rs746053679 0.00001
NM_003119.4(SPG7):c.376G>C (p.Glu126Gln) rs912983346 0.00001
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro) rs727504302 0.00001
NM_004320.6(ATP2A1):c.2758C>T (p.Gln920Ter) rs897301304 0.00001
NM_004369.4(COL6A3):c.6890G>C (p.Gly2297Ala) rs886043576 0.00001
NM_004562.3(PRKN):c.1244C>A (p.Thr415Asn) rs778125254 0.00001
NM_004646.4(NPHS1):c.728_729del (p.Pro243fs) rs1599845714 0.00001
NM_006796.3(AFG3L2):c.202C>T (p.Arg68Ter) rs543422544 0.00001
NM_014231.5(VAMP1):c.315T>A (p.Cys105Ter) rs1237437677 0.00001
NM_014363.6(SACS):c.434C>G (p.Ser145Ter) rs994374354 0.00001
NM_014625.4(NPHS2):c.979C>T (p.Leu327Phe) rs748203170 0.00001
NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter) rs745790694 0.00001
NM_014855.3(AP5Z1):c.721C>T (p.Gln241Ter) rs751778396 0.00001
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe) rs121434380 0.00001
NM_018075.5(ANO10):c.1797+1G>A rs1206950481 0.00001
NM_018075.5(ANO10):c.2T>C (p.Met1Thr) rs531656357 0.00001
NM_018075.5(ANO10):c.473-2A>T rs1553724533 0.00001
NM_018319.4(TDP1):c.2T>G (p.Met1Arg) rs1376503364 0.00001
NM_020320.5(RARS2):c.1582_1583dup (p.Leu528fs) rs863224183 0.00001
NM_024570.4(RNASEH2B):c.698+1G>A rs367915667 0.00001
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462 0.00001
NM_024577.4(SH3TC2):c.375C>A (p.Tyr125Ter) rs1754425732 0.00001
NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp) rs1131691924 0.00001
NM_033380.3(COL4A5):c.1340-1G>A rs753437190 0.00001
NM_145207.3(AFG2A):c.446+1G>A rs1166181741 0.00001
NM_170707.4(LMNA):c.832G>A (p.Ala278Thr) rs1553265433 0.00001
NM_175914.5(HNF4A):c.322G>A (p.Val108Ile) rs377476335 0.00001
NM_182961.4(SYNE1):c.310-489G>T rs1564555089 0.00001
NM_213599.3(ANO5):c.2470del (p.Gln824fs) rs770694933 0.00001
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) rs63751223
NM_000021.4(PSEN1):c.1306C>T (p.Pro436Ser) rs63749925
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro) rs63751399
NM_000021.4(PSEN1):c.358G>A (p.Glu120Lys) rs63750800
NM_000021.4(PSEN1):c.403A>T (p.Asn135Tyr) rs63750353
NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser) rs63751278
NM_000021.4(PSEN1):c.496C>T (p.Leu166Phe)
NM_000021.4(PSEN1):c.519G>T (p.Leu173Phe)
NM_000021.4(PSEN1):c.635C>A (p.Ser212Tyr) rs1555355250
NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr) rs63749836
NM_000021.4(PSEN1):c.714C>G (p.Ile238Met) rs1555355289
NM_000021.4(PSEN1):c.745A>C (p.Ile249Leu) rs1362575880
NM_000021.4(PSEN1):c.786G>C (p.Leu262Phe) rs63750248
NM_000021.4(PSEN1):c.799C>T (p.Pro267Ser) rs63751229
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu) rs1557054776
NM_000033.4(ABCD1):c.1970_1972del (p.Ile657del) rs2148399308
NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys) rs1569540693
NM_000033.4(ABCD1):c.498_520del (p.Val167fs) rs398123112
NM_000051.4(ATM):c.1249del (p.Thr417fs) rs786203166
NM_000051.4(ATM):c.2922-50_2940del rs1555084832
NM_000051.4(ATM):c.6745del (p.Asp2249fs)
NM_000051.4(ATM):c.7000_7003del (p.Tyr2334fs) rs786203421
NM_000051.4(ATM):c.7926A>T (p.Arg2642Ser)
NM_000051.4(ATM):c.8535G>A (p.Trp2845Ter) rs1555138291
NM_000051.4(ATM):c.8871_8872del (p.Leu2957_Phe2958insTer) rs2091200503
NM_000054.7(AVPR2):c.770del (p.Gly257fs) rs193922119
NM_000054.7(AVPR2):c.965C>T (p.Pro322Leu)
NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe) rs794727318
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000070.3(CAPN3):c.2440-2A>G rs769688710
NM_000080.4(CHRNE):c.529_531del (p.Glu177del) rs779816027
NM_000080.4(CHRNE):c.684_687del (p.Asp229fs) rs1597619440
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu) rs759226183
NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp) rs121909515
NM_000083.2(CLCN1):c.698delG rs1423567292
NM_000083.3(CLCN1):c.1297T>C (p.Trp433Arg) rs1027814542
NM_000083.3(CLCN1):c.1616_1617del (p.Thr539fs) rs1554438432
NM_000083.3(CLCN1):c.2416GAGCAG[3] (p.Gln809_Leu810insGluGln)
NM_000083.3(CLCN1):c.411delinsGGA (p.Tyr137Ter) rs1586484463
NM_000083.3(CLCN1):c.434-2_434dup rs753470655
NM_000083.3(CLCN1):c.563G>C (p.Gly188Ala) rs1554434857
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.3(CLCN1):c.593T>C (p.Leu198Pro) rs1347382107
NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser) rs139039122
NM_000085.5(CLCNKB):c.1325A>G (p.Glu442Gly) rs1180658535
NM_000088.4(COL1A1):c.1013G>T (p.Gly338Val) rs1555574249
NM_000088.4(COL1A1):c.1037del (p.Pro346fs) rs1598297682
NM_000088.4(COL1A1):c.1884del (p.Gly629fs) rs1598293710
NM_000088.4(COL1A1):c.256del (p.Val86fs) rs1567764772
NM_000088.4(COL1A1):c.4067G>T (p.Arg1356Leu) rs149820303
NM_000088.4(COL1A1):c.677del (p.Pro226fs) rs1598299754
NM_000089.4(COL1A2):c.3987del (p.Ile1329fs) rs1200377228
NM_000091.5(COL4A3):c.1201G>A (p.Gly401Arg) rs1559878824
NM_000091.5(COL4A3):c.1643G>T (p.Gly548Val) rs2125991176
NM_000091.5(COL4A3):c.1928-1G>A rs1364800683
NM_000091.5(COL4A3):c.1933del (p.Arg645fs) rs1559890140
NM_000091.5(COL4A3):c.2489-1G>A rs1574782406
NM_000091.5(COL4A3):c.2593G>A (p.Gly865Ser) rs1559897190
NM_000091.5(COL4A3):c.547-1G>T rs1240347743
NM_000091.5(COL4A3):c.997G>A (p.Gly333Arg) rs761819520
NM_000092.4(COL4A4):c.2100_2102delinsGTGT (p.Ser700fs) rs1553644383
NM_000092.4(COL4A4):c.3861delinsCTC (p.Arg1288fs) rs1575895541
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter) rs534522842
NM_000092.5(COL4A4):c.1697-1G>A rs1559569975
NM_000092.5(COL4A4):c.2039G>A (p.Gly680Asp) rs1553646081
NM_000092.5(COL4A4):c.2456G>T (p.Gly819Val) rs1576189036
NM_000092.5(COL4A4):c.3577G>T (p.Gly1193Cys) rs1158350974
NM_000092.5(COL4A4):c.3842dup (p.Gly1282fs) rs1575895799
NM_000092.5(COL4A4):c.482G>T (p.Gly161Val) rs745672795
NM_000092.5(COL4A4):c.4953G>A (p.Trp1651Ter) rs1408907127
NM_000092.5(COL4A4):c.737G>A (p.Gly246Asp) rs1559631986
NM_000092.5(COL4A4):c.871-1G>C rs375450996
NM_000117.3(EMD):c.682C>T (p.Gln228Ter)
NM_000144.5(FXN):c.165+2_165+3insTT rs1564326640
NM_000144.5(FXN):c.385-1G>C rs1554761915
NM_000144.5(FXN):c.483-2A>G rs1554762735
NM_000144.5(FXN):c.498T>G (p.Tyr166Ter) rs1587832283
NM_000161.3(GCH1):c.13_19del (p.Pro5fs) rs1555362905
NM_000161.3(GCH1):c.248dup (p.Glu84fs) rs1595031221
NM_000161.3(GCH1):c.557C>T (p.Thr186Ile)
NM_000162.5(GCK):c.1020-10C>A rs193922257
NM_000162.5(GCK):c.1099G>A (p.Val367Met) rs1057521092
NM_000162.5(GCK):c.1113C>G (p.Cys371Trp) rs556581174
NM_000162.5(GCK):c.1136C>T (p.Ala379Val) rs193922265
NM_000162.5(GCK):c.1146C>A (p.Cys382Ter) rs1583591809
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu) rs777870079
NM_000162.5(GCK):c.1157T>C (p.Leu386Pro) rs193922268
NM_000162.5(GCK):c.1190G>T (p.Arg397Leu) rs193929375
NM_000162.5(GCK):c.127C>A (p.Arg43Ser) rs1486280029
NM_000162.5(GCK):c.128G>C (p.Arg43Pro) rs764232985
NM_000162.5(GCK):c.131G>A (p.Gly44Asp) rs193922279
NM_000162.5(GCK):c.1339C>G (p.Arg447Gly) rs193922281
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) rs193922283
NM_000162.5(GCK):c.1360del (p.Ala454fs) rs1583590393
NM_000162.5(GCK):c.185T>C (p.Val62Ala) rs1444739794
NM_000162.5(GCK):c.322T>C (p.Tyr108His) rs193922292
NM_000162.5(GCK):c.364C>A (p.Leu122Ile) rs1554335616
NM_000162.5(GCK):c.478G>A (p.Asp160Asn) rs1554335566
NM_000162.5(GCK):c.491T>C (p.Leu164Pro) rs2096278847
NM_000162.5(GCK):c.540T>G (p.Asn180Lys) rs1554335444
NM_000162.5(GCK):c.572G>A (p.Arg191Gln) rs886042610
NM_000162.5(GCK):c.610A>G (p.Asn204Asp) rs2128821512
NM_000162.5(GCK):c.666del (p.Gly223fs) rs2096278285
NM_000162.5(GCK):c.682A>G (p.Thr228Ala) rs1332966015
NM_000162.5(GCK):c.737G>A (p.Gly246Glu) rs1583596522
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000162.5(GCK):c.819T>A (p.Tyr273Ter) rs1562715296
NM_000162.5(GCK):c.848del (p.Asn283fs) rs1583596119
NM_000162.5(GCK):c.884G>A (p.Gly295Asp) rs2096273902
NM_000162.5(GCK):c.907C>T (p.Arg303Trp) rs193922336
NM_000162.5(GCK):c.908G>T (p.Arg303Leu) rs1312678560
NM_000162.5(GCK):c.911T>C (p.Leu304Pro) rs1554334894
NM_000162.5(GCK):c.964G>T (p.Glu322Ter)
NM_000166.6(GJB1):c.151T>C (p.Phe51Leu) rs876661269
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile) rs104894824
NM_000166.6(GJB1):c.175G>C (p.Gly59Arg) rs1555937077
NM_000166.6(GJB1):c.44G>C (p.Arg15Pro)
NM_000166.6(GJB1):c.478T>C (p.Tyr160His) rs1555937197
NM_000166.6(GJB1):c.479A>G (p.Tyr160Cys) rs1602349451
NM_000166.6(GJB1):c.540C>G (p.Phe180Leu) rs771022595
NM_000166.6(GJB1):c.541G>C (p.Val181Leu) rs879253909
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_000166.6(GJB1):c.559A>G (p.Lys187Glu) rs1555937244
NM_000166.6(GJB1):c.602del (p.Cys201fs) rs1569215424
NM_000166.6(GJB1):c.842dup (p.Ala282fs) rs1569215591
NM_000170.3(GLDC):c.2607dup (p.Phe870fs) rs1554642300
NM_000183.3(HADHB):c.1301G>T (p.Gly434Val)
NM_000209.4(PDX1):c.683_699del (p.Ala228fs) rs1566025668
NM_000217.3(KCNA1):c.913C>T (p.Leu305Phe) rs1555085761
NM_000217.3(KCNA1):c.941T>C (p.Ile314Thr) rs1085308020
NM_000271.5(NPC1):c.3637T>G (p.Leu1213Val)
NM_000287.4(PEX6):c.1338_1339del (p.Ala447fs) rs398123303
NM_000297.4(PKD2):c.1929dup (p.Ile644fs) rs1720428157
NM_000304.4(PMP22):c.138del (p.Ser47fs) rs864622180
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro) rs104894623
NM_000304.4(PMP22):c.228C>G (p.Ser76Arg) rs1555565283
NM_000304.4(PMP22):c.431C>G (p.Pro144Arg) rs1555564032
NM_000334.4(SCN4A):c.1173del (p.Phe392fs) rs1235665641
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr) rs1057518865
NM_000334.4(SCN4A):c.2386C>G (p.Leu796Val) rs750053946
NM_000334.4(SCN4A):c.3473C>T (p.Pro1158Leu) rs1555601448
NM_000334.4(SCN4A):c.3929T>A (p.Ile1310Asn) rs1567817380
NM_000334.4(SCN4A):c.4108A>G (p.Met1370Val) rs80338960
NM_000334.4(SCN4A):c.4372G>T (p.Val1458Phe) rs1199222144
NM_000334.4(SCN4A):c.4426A>G (p.Met1476Val) rs1567816461
NM_000334.4(SCN4A):c.4897C>G (p.Gln1633Glu) rs2144773878
NM_000338.3(SLC12A1):c.2869dup (p.Ile957fs) rs764247288
NM_000338.3(SLC12A1):c.2978del (p.Glu993fs) rs1566861493
NM_000344.4(SMN1):c.109dup (p.Thr37fs) rs1561499582
NM_000344.4(SMN1):c.135dup (p.Ala46fs) rs1554081951
NM_000344.4(SMN1):c.460C>T (p.Gln154Ter) rs1561499692
NM_000344.4(SMN1):c.584del (p.Pro195fs) rs1561499748
NM_000344.4(SMN1):c.630del (p.Gly211fs)
NM_000344.4(SMN1):c.93_96dup (p.Ile33Ter) rs1554081950
NM_000346.4(SOX9):c.327G>T (p.Met109Ile)
NM_000352.6(ABCC8):c.2146G>A (p.Gly716Ser) rs1591794677
NM_000352.6(ABCC8):c.3872_3873dup (p.Asn1292fs) rs1953988179
NM_000368.5(TSC1):c.1125dup (p.Val376fs) rs1554817227
NM_000368.5(TSC1):c.1569_1570delinsGTGAA (p.Ser524Ter) rs2131841336
NM_000368.5(TSC1):c.211-7T>G rs1554820321
NM_000368.5(TSC1):c.456del (p.Asp153fs) rs1554819896
NM_000368.5(TSC1):c.473T>C (p.Phe158Ser) rs118203385
NM_000370.3(TTPA):c.173C>A (p.Ala58Asp) rs1805742556
NM_000371.4(TTR):c.165G>T (p.Lys55Asn) rs1567945684
NM_000371.4(TTR):c.193G>A (p.Ala65Thr) rs121918078
NM_000371.4(TTR):c.221A>G (p.Glu74Gly) rs1598845097
NM_000388.4(CASR):c.1250C>G (p.Ser417Cys) rs1576859379
NM_000388.4(CASR):c.1664T>C (p.Ile555Thr) rs1576875819
NM_000388.4(CASR):c.1913dup (p.Asn639fs) rs1576877163
NM_000388.4(CASR):c.2042A>G (p.Gln681Arg) rs2107649847
NM_000388.4(CASR):c.2243C>G (p.Pro748Arg) rs193922433
NM_000388.4(CASR):c.2449G>A (p.Val817Ile) rs1057518933
NM_000388.4(CASR):c.2454G>A (p.Trp818Ter) rs1576878011
NM_000388.4(CASR):c.372C>A (p.Asn124Lys) rs757571398
NM_000388.4(CASR):c.518T>C (p.Leu173Pro) rs2107631736
NM_000388.4(CASR):c.61G>A (p.Gly21Arg) rs1064794290
NM_000388.4(CASR):c.707G>T (p.Cys236Phe) rs1057518616
NM_000388.4(CASR):c.823_824del (p.Asp275fs) rs1553766794
NM_000414.4(HSD17B4):c.421C>T (p.Gln141Ter) rs2126696915
NM_000435.3(NOTCH3):c.1216G>T (p.Gly406Cys) rs2046907944
NM_000435.3(NOTCH3):c.1305T>G (p.Cys435Trp) rs2046907170
NM_000435.3(NOTCH3):c.1547G>A (p.Cys516Tyr) rs2046897026
NM_000435.3(NOTCH3):c.1823G>A (p.Cys608Tyr) rs778350156
NM_000435.3(NOTCH3):c.2956T>G (p.Cys986Gly) rs763321998
NM_000435.3(NOTCH3):c.316T>A (p.Cys106Ser)
NM_000435.3(NOTCH3):c.351C>G (p.Cys117Trp) rs200881673
NM_000435.3(NOTCH3):c.3571T>C (p.Cys1191Arg)
NM_000435.3(NOTCH3):c.3783C>G (p.Cys1261Trp)
NM_000435.3(NOTCH3):c.383G>T (p.Cys128Phe) rs1568362039
NM_000435.3(NOTCH3):c.430T>C (p.Cys144Arg) rs2046934287
NM_000435.3(NOTCH3):c.437G>T (p.Cys146Phe) rs1236699193
NM_000435.3(NOTCH3):c.485G>T (p.Cys162Phe) rs2145441996
NM_000435.3(NOTCH3):c.512_605delinsA (p.Gly171_Ala202delinsGlu) rs2046931882
NM_000435.3(NOTCH3):c.798G>T (p.Trp266Cys) rs2046928465
NM_000435.3(NOTCH3):c.954T>G (p.Cys318Trp) rs2145439818
NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro) rs63749851
NM_000454.5(SOD1):c.229G>T (p.Asp77Tyr) rs1601157750
NM_000454.5(SOD1):c.443G>A (p.Gly148Asp) rs1555836950
NM_000454.5(SOD1):c.50G>C (p.Gly17Ala) rs1200906022
NM_000458.4(HNF1B):c.766C>T (p.Pro256Ser)
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
NM_000475.5(NR0B1):c.542_557del (p.Pro181fs) rs1569268919
NM_000478.6(ALPL):c.522del (p.Ser175fs) rs750174638
NM_000484.4(APP):c.2032G>C (p.Asp678His) rs63750064
NM_000484.4(APP):c.2143G>A (p.Val715Met) rs63750734
NM_000486.6(AQP2):c.97_119del (p.Asn33fs) rs772201159
NM_000497.4(CYP11B1):c.954G>A (p.Thr318=) rs753774484
NM_000497.4(CYP11B1):c.96del (p.Arg33fs) rs768007725
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000500.9(CYP21A2):c.341C>T (p.Ser114Phe)
NM_000500.9(CYP21A2):c.397C>T (p.Arg133Cys)
NM_000500.9(CYP21A2):c.448C>T (p.Arg150Cys)
NM_000525.4(KCNJ11):c.532del (p.Ala178fs) rs1554901775
NM_000525.4(KCNJ11):c.774C>A (p.Tyr258Ter) rs1564865232
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000530.8(MPZ):c.176C>T (p.Ser59Leu) rs879254297
NM_000530.8(MPZ):c.200_201del (p.Arg67fs) rs1670284480
NM_000530.8(MPZ):c.233C>G (p.Ser78Trp) rs121913601
NM_000530.8(MPZ):c.278G>A (p.Gly93Glu) rs1060503418
NM_000530.8(MPZ):c.400G>A (p.Asp134Asn) rs1553259647
NM_000530.8(MPZ):c.409G>A (p.Gly137Ser) rs121913588
NM_000530.8(MPZ):c.410G>T (p.Gly137Val) rs863225025
NM_000530.8(MPZ):c.448+1G>T rs1407955132
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del) rs755446743
NM_000530.8(MPZ):c.88A>G (p.Ile30Val) rs1386345719
NM_000532.5(PCCB):c.605G>C (p.Gly202Ala)
NM_000533.5(PLP1):c.789C>A (p.Tyr263Ter) rs1556273075
NM_000540.3(RYR1):c.12094+2T>C
NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr) rs754729248
NM_000545.8(HNF1A):c.150C>A (p.Cys50Ter)
NM_000545.8(HNF1A):c.1531C>T (p.Gln511Ter) rs551484245
NM_000545.8(HNF1A):c.1781G>T (p.Ser594Ile) rs2135854451
NM_000545.8(HNF1A):c.392G>T (p.Arg131Leu) rs753998395
NM_000545.8(HNF1A):c.494G>A (p.Trp165Ter) rs1555211436
NM_000545.8(HNF1A):c.586del (p.Thr196fs) rs1565885524
NM_000545.8(HNF1A):c.654T>A (p.Tyr218Ter)
NM_000545.8(HNF1A):c.704A>G (p.Glu235Gly) rs1593058338
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del) rs1288094664
NM_000545.8(HNF1A):c.956-1G>A rs1565886545
NM_000548.5(TSC2):c.1840-2A>C rs45517205
NM_000548.5(TSC2):c.3089T>G (p.Met1030Arg) rs1567496821
NM_000548.5(TSC2):c.3164del (p.Gly1055fs) rs1555510519
NM_000548.5(TSC2):c.3783del (p.Lys1262fs) rs1555512548
NM_000548.5(TSC2):c.4006-1G>C rs1085307853
NM_000548.5(TSC2):c.4030_4038delinsT (p.Glu1344fs)
NM_000548.5(TSC2):c.4569+1G>A rs1060500972
NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro) rs45517362
NM_000548.5(TSC2):c.478C>G (p.Leu160Val) rs45517109
NM_000548.5(TSC2):c.4938_4946del (p.Ser1647_Val1649del) rs1555438624
NM_000548.5(TSC2):c.5012T>A (p.Val1671Glu) rs2151611996
NM_000548.5(TSC2):c.5234_5238del (p.Arg1745fs) rs137854002
NM_000702.4(ATP1A2):c.117+1G>A rs1553244022
NM_000702.4(ATP1A2):c.2698G>A (p.Gly900Arg) rs1553245908
NM_000702.4(ATP1A2):c.3005G>A (p.Arg1002Gln) rs757310141
NM_001005361.3(DNM2):c.1070C>T (p.Ser357Phe) rs1064793101
NM_001009944.3(PKD1):c.10259G>A (p.Trp3420Ter) rs2151727019
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser) rs1303102528
NM_001009944.3(PKD1):c.11453G>A (p.Gly3818Asp) rs1555445740
NM_001009944.3(PKD1):c.11525G>A (p.Trp3842Ter) rs1596481464
NM_001009944.3(PKD1):c.11570dup (p.Tyr3857Ter) rs1555445579
NM_001009944.3(PKD1):c.12003+14_12003+33del rs1567148835
NM_001009944.3(PKD1):c.12139-1G>T rs1596474257
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met) rs2855341
NM_001009944.3(PKD1):c.1522T>C (p.Cys508Arg) rs58598099
NM_001009944.3(PKD1):c.2269C>T (p.Gln757Ter) rs775710328
NM_001009944.3(PKD1):c.2548_2557del (p.Asp850fs) rs1596575921
NM_001009944.3(PKD1):c.2804_2829del (p.Leu935fs) rs1567209616
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del) rs1567202750
NM_001009944.3(PKD1):c.4165_4166del (p.Arg1389fs) rs1555456208
NM_001009944.3(PKD1):c.4894_4901dup (p.Gly1634_Leu1635insTer) rs1567198410
NM_001009944.3(PKD1):c.4898del (p.Glu1633fs)
NM_001009944.3(PKD1):c.5245del (p.Val1749fs) rs1555455279
NM_001009944.3(PKD1):c.5913delinsACC (p.Ser1972fs) rs1567194928
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp) rs151257298
NM_001009944.3(PKD1):c.7483T>C (p.Cys2495Arg) rs2092338268
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_001009944.3(PKD1):c.789_843del (p.Leu264fs) rs1596590005
NM_001009944.3(PKD1):c.8049C>A (p.Cys2683Ter) rs377029031
NM_001009944.3(PKD1):c.8447T>C (p.Leu2816Pro) rs1567177684
NM_001009944.3(PKD1):c.8483T>C (p.Leu2828Pro) rs1555451143
NM_001009944.3(PKD1):c.8545del (p.Ala2849fs) rs1555451093
NM_001009944.3(PKD1):c.8978T>C (p.Leu2993Pro) rs1555450487
NM_001009944.3(PKD1):c.9033C>G (p.Tyr3011Ter) rs1408935894
NM_001039.4(SCNN1G):c.1697G>A (p.Trp566Ter) rs1596779485
NM_001040142.2(SCN2A):c.2939C>G (p.Ala980Gly) rs1700069190
NM_001040142.2(SCN2A):c.4907T>C (p.Ile1636Thr)
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_001042492.3(NF1):c.3851del (p.Ile1284fs)
NM_001042492.3(NF1):c.6147+2T>C rs1555534621
NM_001042492.3(NF1):c.7190-1G>C
NM_001042492.3(NF1):c.7647del (p.Asp2550fs) rs1597865773
NM_001042492.3(NF1):c.7949_7950del (p.Phe2650fs) rs2070298779
NM_001077365.2(POMT1):c.574_575del (p.Leu192fs) rs1554773974
NM_001077365.2(POMT1):c.699+67del rs1588377489
NM_001079668.3(NKX2-1):c.733A>T (p.Lys245Ter)
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_001110556.2(FLNA):c.1027_1028del (p.Ser343fs) rs1557179349
NM_001111125.3(IQSEC2):c.2749+2T>C rs1602277471
NM_001126108.2(SLC12A3):c.1261T>G (p.Cys421Gly) rs28936387
NM_001126108.2(SLC12A3):c.602-1G>A rs2055071377
NM_001127222.2(CACNA1A):c.104del (p.Gly35fs) rs1568720031
NM_001127222.2(CACNA1A):c.2896del (p.Glu966fs)
NM_001127222.2(CACNA1A):c.3261_3316del (p.Leu1090fs) rs1555752975
NM_001127222.2(CACNA1A):c.399+1G>C rs2060983144
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001127222.2(CACNA1A):c.4996C>T (p.Arg1666Trp) rs121908220
NM_001127222.2(CACNA1A):c.5125G>A (p.Gly1709Arg) rs1555738200
NM_001127222.2(CACNA1A):c.5248C>T (p.Arg1750Trp) rs1568446845
NM_001127222.2(CACNA1A):c.6408_6409insTAGCCTG (p.Asp2137Ter) rs2054719760
NM_001127644.2(GABRA1):c.857-2A>G rs1313965409
NM_001130987.2(DYSF):c.1033+4A>T rs1397221551
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys) rs756328339
NM_001130987.2(DYSF):c.3859dup (p.Glu1287fs) rs779407815
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) rs863225021
NM_001130987.2(DYSF):c.5547-1G>C rs1573094617
NM_001164508.2(NEB):c.1161C>G (p.Tyr387Ter) rs1259297878
NM_001165963.4(SCN1A):c.1170+4A>G rs1697995660
NM_001165963.4(SCN1A):c.2303C>T (p.Pro768Leu) rs794726766
NM_001165963.4(SCN1A):c.2369del (p.Tyr790fs)
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln) rs121918785
NM_001165963.4(SCN1A):c.4476+6T>G rs1057523807
NM_001165963.4(SCN1A):c.4871T>C (p.Leu1624Pro) rs1689377026
NM_001166114.2(PNPLA6):c.3882del (p.Thr1295fs)
NM_001184880.2(PCDH19):c.2289-2A>G rs1928233784
NM_001184880.2(PCDH19):c.697G>T (p.Asp233Tyr) rs1555985482
NM_001195248.2(APTX):c.506_507insCTGG (p.Gln169fs) rs1587449274
NM_001195248.2(APTX):c.686del (p.Thr229fs) rs1587435802
NM_001243133.2(NLRP3):c.1322A>G (p.Tyr441Cys)
NM_001244710.2(GFPT1):c.1205_1206insGCGTC (p.Gln404fs) rs1574051096
NM_001267550.2(TTN):c.106375-2A>G rs1553482872
NM_001267550.2(TTN):c.31927+1G>T rs1553852989
NM_001267550.2(TTN):c.33535del (p.Glu11179fs)
NM_001267550.2(TTN):c.634C>T (p.Gln212Ter) rs1554042042
NM_001292063.2(OTOG):c.3409-2A>G rs934194113
NM_001292063.2(OTOG):c.499del (p.Val167fs) rs876657657
NM_001365536.1(SCN9A):c.611_612dup (p.Val205fs) rs1574903287
NM_001370259.2(MEN1):c.959C>T (p.Pro320Leu) rs1114167469
NM_001370298.3(FGD4):c.2298_2302dup (p.Gly768fs) rs751035912
NM_001378452.1(ITPR1):c.1744del (p.Gln582fs) rs2125201760
NM_001378452.1(ITPR1):c.7793T>C (p.Ile2598Thr) rs1553758021
NM_001378452.1(ITPR1):c.800C>G (p.Thr267Arg) rs797044955
NM_001378969.1(KCND3):c.1094T>C (p.Met365Thr)
NM_001378969.1(KCND3):c.1150G>A (p.Gly384Ser) rs1664632655
NM_001379500.1(COL18A1):c.1593del (p.Pro534fs) rs778909108
NM_001458.5(FLNC):c.8076C>A (p.Tyr2692Ter) rs1563006133
NM_001540.5(HSPB1):c.416C>T (p.Thr139Met) rs1064795077
NM_001540.5(HSPB1):c.560C>T (p.Ser187Leu) rs774585320
NM_001845.6(COL4A1):c.1040G>T (p.Gly347Val) rs1566370178
NM_001845.6(COL4A1):c.3236G>A (p.Gly1079Glu) rs1566349968
NM_001845.6(COL4A1):c.3480del (p.Ser1161fs)
NM_001849.4(COL6A2):c.2646del (p.Phe882fs) rs1555877282
NM_001927.4(DES):c.1094ACA[1] (p.Asn366del) rs58687088
NM_001927.4(DES):c.1346A>C (p.Lys449Thr) rs267607485
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.4(DES):c.5G>T (p.Ser2Ile) rs58999456
NM_002055.5(GFAP):c.1171+472G>A rs748860341
NM_002055.5(GFAP):c.197G>A (p.Arg66Gln) rs797044569
NM_002087.4(GRN):c.6G>A (p.Trp2Ter) rs1555610855
NM_002087.4(GRN):c.708+6_708+9del rs778599933
NM_002087.4(GRN):c.745C>T (p.Gln249Ter) rs1598364358
NM_002292.4(LAMB2):c.1599-1G>T rs1330915067
NM_002437.5(MPV17):c.405C>G (p.Tyr135Ter) rs774833271
NM_002693.3(POLG):c.160C>T (p.Gln54Ter) rs774768199
NM_002693.3(POLG):c.178C>T (p.Gln60Ter)
NM_002693.3(POLG):c.2215_2216insG (p.Tyr739Ter)
NM_002693.3(POLG):c.3528_3531del (p.Val1177fs) rs1596348547
NM_002739.5(PRKCG):c.1081A>G (p.Ser361Gly) rs121918517
NM_002739.5(PRKCG):c.356C>T (p.Ser119Phe) rs386134163
NM_002739.5(PRKCG):c.401_402delinsTT (p.Cys134Phe) rs2068659442
NM_003072.5(SMARCA4):c.2463G>C (p.Glu821Asp)
NM_003119.4(SPG7):c.2246C>T (p.Pro749Leu)
NM_003119.4(SPG7):c.69G>A (p.Trp23Ter)
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup) rs757679761
NM_003361.4(UMOD):c.230G>C (p.Cys77Ser) rs121917768
NM_003850.3(SUCLA2):c.308C>A (p.Ala103Asp) rs1566091706
NM_003896.4(ST3GAL5):c.124del (p.Cys42fs) rs777319882
NM_003919.3(SGCE):c.463G>A (p.Asp155Asn)
NM_003919.3(SGCE):c.551T>C (p.Leu184Pro) rs1064794321
NM_004004.6(GJB2):c.187G>T (p.Val63Leu) rs370696868
NM_004004.6(GJB2):c.605G>T (p.Cys202Phe) rs104894406
NM_004006.3(DMD):c.1304_1331+10del rs1556875089
NM_004006.3(DMD):c.3276+1G>C rs398123934
NM_004006.3(DMD):c.5586+1G>A rs1557292599
NM_004006.3(DMD):c.93+2T>A rs1602765856
NM_004320.6(ATP2A1):c.2011C>T (p.Arg671Ter) rs1555516994
NM_004320.6(ATP2A1):c.2311G>T (p.Glu771Ter) rs972494690
NM_004320.6(ATP2A1):c.2464dup (p.Arg822fs) rs751365374
NM_004415.4(DSP):c.3924_3925del (p.His1309fs)
NM_004984.4(KIF5A):c.827A>G (p.Tyr276Cys) rs121434443
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys) rs121434442
NM_005251.3(FOXC2):c.443_449dup (p.Asp151fs)
NM_005529.7(HSPG2):c.1219dup (p.Gln407fs) rs763945561
NM_005591.4(MRE11):c.295_298del (p.Val99fs) rs1555017184
NM_005591.4(MRE11):c.314+2T>C rs1591718826
NM_005619.5(RTN2):c.1497+2T>C rs1421302939
NM_005629.4(SLC6A8):c.946dup (p.Ser316fs) rs1569539358
NM_006158.5(NEFL):c.794A>G (p.Tyr265Cys) rs587777880
NM_006158.5(NEFL):c.865G>T (p.Glu289Ter) rs1586128143
NM_006496.4(GNAI3):c.119G>T (p.Gly40Val)
NM_006767.4(LZTR1):c.628dup (p.Arg210fs) rs1457594219
NM_006790.3(MYOT):c.116C>T (p.Ser39Phe) rs121908461
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val) rs151344514
NM_006796.3(AFG3L2):c.2025T>A (p.Phe675Leu) rs1907788208
NM_006941.4(SOX10):c.1352_1359dup (p.His454fs) rs1601878540
NM_006946.4(SPTBN2):c.2605GAG[1] (p.Glu870del)
NM_006946.4(SPTBN2):c.4986-2A>C rs1450514987
NM_007217.4(PDCD10):c.150+1G>A rs1553762839
NM_013382.7(POMT2):c.1863_1864del (p.Ala623fs) rs1555351849
NM_014043.4(CHMP2B):c.618A>T (p.Gln206His)
NM_014053.4(FLVCR1):c.1500G>A (p.Trp500Ter)
NM_014053.4(FLVCR1):c.1554_1555del (p.His518fs) rs777543198
NM_014053.4(FLVCR1):c.1561_1564del (p.Ile520_Asn521insTer) rs1572031494
NM_014363.6(SACS):c.10226C>G (p.Ser3409Ter) rs1566059895
NM_014363.6(SACS):c.10939G>T (p.Glu3647Ter) rs1156566314
NM_014363.6(SACS):c.2713A>T (p.Lys905Ter) rs1593133714
NM_014363.6(SACS):c.2886_2887del (p.Ser963fs) rs1326359185
NM_014363.6(SACS):c.4299G>A (p.Trp1433Ter) rs768209419
NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter) rs1868872666
NM_014363.6(SACS):c.7116del (p.Gln2373fs)
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs) rs1555251539
NM_014363.6(SACS):c.8238_8239dup (p.Ile2747fs) rs779248938
NM_014625.4(NPHS2):c.264del (p.Glu90fs)
NM_014625.4(NPHS2):c.28dup (p.Arg10fs) rs1553316670
NM_014625.4(NPHS2):c.951del (p.Ala318fs) rs1553312368
NM_014845.6(FIG4):c.1889+1G>T
NM_014845.6(FIG4):c.454C>T (p.Arg152Ter) rs1175493477
NM_014846.4(WASHC5):c.1597C>T (p.Gln533Ter) rs1586362593
NM_014855.3(AP5Z1):c.1015dup (p.Asp339fs) rs1562408333
NM_014855.3(AP5Z1):c.1767dup (p.Leu590fs)
NM_014855.3(AP5Z1):c.355_358dup (p.Leu120fs) rs1554257381
NM_014874.4(MFN2):c.1091G>A (p.Arg364Gln) rs879254011
NM_014874.4(MFN2):c.263T>C (p.Ile88Thr) rs1638739035
NM_014874.4(MFN2):c.283A>G (p.Arg95Gly) rs1060501920
NM_014874.4(MFN2):c.382C>T (p.His128Tyr) rs2100822486
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_014874.4(MFN2):c.827A>G (p.Gln276Arg) rs119103264
NM_014946.4(SPAST):c.1209del (p.Phe404fs) rs1057520127
NM_014946.4(SPAST):c.1250G>C (p.Gly417Ala) rs1553318161
NM_014946.4(SPAST):c.1386A>C (p.Lys462Asn) rs1573156433
NM_014946.4(SPAST):c.1493G>A (p.Arg498Lys)
NM_014946.4(SPAST):c.1493G>C (p.Arg498Thr) rs2148754411
NM_014946.4(SPAST):c.1507C>T (p.Arg503Trp) rs864622162
NM_014946.4(SPAST):c.1675G>C (p.Gly559Arg) rs878854992
NM_014946.4(SPAST):c.1730T>G (p.Met577Arg) rs1553321196
NM_014946.4(SPAST):c.363del (p.Lys121fs) rs1553394622
NM_014946.4(SPAST):c.405_409dup (p.Glu137fs) rs1676417081
NM_014946.4(SPAST):c.924dup (p.Arg309fs) rs1678805865
NM_014946.4(SPAST):c.943A>T (p.Lys315Ter) rs1573120705
NM_014946.4(SPAST):c.962_974del (p.Asp321fs) rs1553315223
NM_015046.7(SETX):c.2228C>G (p.Ser743Ter)
NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter) rs1589734405
NM_015046.7(SETX):c.5130T>A (p.Tyr1710Ter) rs768582274
NM_015046.7(SETX):c.5543C>A (p.Ser1848Ter)
NM_015046.7(SETX):c.5673del (p.Ala1892fs) rs1844781818
NM_015046.7(SETX):c.6289C>T (p.Gln2097Ter) rs901109960
NM_015046.7(SETX):c.6654+1G>A rs1554806979
NM_015046.7(SETX):c.6729_6730del (p.His2243fs) rs752122764
NM_015046.7(SETX):c.6850_6851dup (p.Ala2285fs) rs748700245
NM_015046.7(SETX):c.7121_7122del (p.Val2374fs) rs765371601
NM_015046.7(SETX):c.7288-2A>G rs1554801819
NM_015295.3(SMCHD1):c.5782dup (p.Ser1928fs) rs1555658855
NM_015346.4(ZFYVE26):c.5989C>T (p.Gln1997Ter)
NM_015346.4(ZFYVE26):c.7041C>A (p.Cys2347Ter) rs370837940
NM_015346.4(ZFYVE26):c.887-2A>G rs1594937657
NM_015915.5(ATL1):c.1228G>A (p.Gly410Arg) rs1555365854
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp) rs119476050
NM_015915.5(ATL1):c.563A>G (p.Gln188Arg) rs1555364153
NM_016239.4(MYO15A):c.4321-2A>T rs1597780918
NM_017534.6(MYH2):c.1275del (p.Asn425fs) rs1567734638
NM_018075.5(ANO10):c.1179_1180del (p.Glu393fs)
NM_018075.5(ANO10):c.1760C>G (p.Ser587Ter)
NM_018105.3(THAP1):c.86G>A (p.Arg29Gln)
NM_018129.4(PNPO):c.264-2A>G rs780977054
NM_018136.5(ASPM):c.5409del (p.Ala1804fs) rs1461653803
NM_018319.4(TDP1):c.1731_1753+646del rs1566929134
NM_018972.4(GDAP1):c.116A>G (p.Lys39Arg) rs1586794308
NM_018972.4(GDAP1):c.287A>G (p.Tyr96Cys) rs1586795440
NM_020247.5(COQ8A):c.1163-2A>G rs1572081759
NM_020247.5(COQ8A):c.148del (p.Gln50fs) rs1553276474
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del) rs387906299
NM_022489.4(INF2):c.326T>G (p.Met109Arg) rs1555373368
NM_024301.5(FKRP):c.1006_1174del (p.Ala336fs) rs1599938271
NM_025137.4(SPG11):c.237C>A (p.Cys79Ter) rs1566838168
NM_025137.4(SPG11):c.3000del (p.Leu1001fs) rs1555454488
NM_025137.4(SPG11):c.4740_4743dup (p.Leu1582fs)
NM_025137.4(SPG11):c.5844del (p.Pro1949_Leu1950insTer) rs1323156960
NM_030665.4(RAI1):c.1321C>T (p.Gln441Ter) rs1555565108
NM_031443.4(CCM2):c.30+5_30+6delinsTT rs797044623
NM_033109.5(PNPT1):c.223-1G>A
NM_033337.3(CAV3):c.84C>G (p.Asp28Glu) rs116840782
NM_033380.3(COL4A5):c.1111G>T (p.Gly371Ter) rs878853015
NM_033380.3(COL4A5):c.1508G>T (p.Gly503Val) rs1569493679
NM_033380.3(COL4A5):c.1779+1G>A rs104886337
NM_033380.3(COL4A5):c.1895G>T (p.Gly632Val)
NM_033380.3(COL4A5):c.2024_2029del (p.Gly675_Asp676del) rs1569494903
NM_033380.3(COL4A5):c.3238G>C (p.Gly1080Arg) rs1556421731
NM_033380.3(COL4A5):c.3427G>T (p.Gly1143Cys) rs104886228
NM_033380.3(COL4A5):c.3872dup (p.Asn1292fs) rs2068330297
NM_033380.3(COL4A5):c.458G>T (p.Gly153Val) rs1569488946
NM_033380.3(COL4A5):c.983del (p.Gly328fs) rs1556407684
NM_052867.4(NALCN):c.966T>G (p.Ile322Met)
NM_130837.3(OPA1):c.1035+5G>A rs754576717
NM_130837.3(OPA1):c.1036-1G>T rs863224130
NM_130837.3(OPA1):c.1150-2A>T rs886041317
NM_130837.3(OPA1):c.1174C>G (p.His392Asp) rs1553877591
NM_130837.3(OPA1):c.1627G>A (p.Gly543Arg) rs1553878554
NM_130837.3(OPA1):c.1886T>C (p.Leu629Pro) rs1711513392
NM_130837.3(OPA1):c.2661+2T>C
NM_130837.3(OPA1):c.2983+3G>C rs1553788117
NM_130837.3(OPA1):c.3010del (p.Asp1005fs) rs1721762061
NM_130837.3(OPA1):c.6G>A (p.Trp2Ter)
NM_139058.3(ARX):c.1607G>C (p.Arg536Thr) rs2048669411
NM_145207.3(AFG2A):c.1A>C (p.Met1Leu) rs552219028
NM_152564.5(VPS13B):c.3083-1G>A rs1563726973
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.4(LMNA):c.241T>C (p.Tyr81His) rs1553261977
NM_172107.4(KCNQ2):c.1692_1700del (p.Met565_Val567del)
NM_172107.4(KCNQ2):c.1742G>C (p.Arg581Pro) rs118192235
NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln) rs1085307913
NM_175914.5(HNF4A):c.577G>T (p.Asp193Tyr)
NM_175914.5(HNF4A):c.692G>A (p.Arg231Gln) rs1555816615
NM_175914.5(HNF4A):c.868C>T (p.Arg290Cys) rs1555817727
NM_182961.4(SYNE1):c.10486G>T (p.Glu3496Ter)
NM_182961.4(SYNE1):c.11138_11145del (p.Ser3713fs) rs1590884711
NM_182961.4(SYNE1):c.11662C>T (p.Gln3888Ter) rs1590820792
NM_182961.4(SYNE1):c.11971_11974del (p.Ile3991fs) rs1246610728
NM_182961.4(SYNE1):c.13390C>T (p.Gln4464Ter) rs1554471992
NM_182961.4(SYNE1):c.14290C>T (p.Arg4764Ter)
NM_182961.4(SYNE1):c.15567del (p.Trp5189fs) rs1590102028
NM_182961.4(SYNE1):c.15897del (p.Met5300fs) rs1057518603
NM_182961.4(SYNE1):c.16421C>A (p.Ser5474Ter) rs797046024
NM_182961.4(SYNE1):c.16828G>T (p.Gly5610Ter)
NM_182961.4(SYNE1):c.16882C>T (p.Gln5628Ter) rs2153836962
NM_182961.4(SYNE1):c.17003delinsTC (p.Gln5668fs) rs1589780980
NM_182961.4(SYNE1):c.19582C>T (p.Gln6528Ter)
NM_182961.4(SYNE1):c.20602C>T (p.Arg6868Ter) rs763818494
NM_182961.4(SYNE1):c.226-1G>A rs1594574182
NM_182961.4(SYNE1):c.22709_22763del (p.Glu7570fs) rs1554558620
NM_182961.4(SYNE1):c.23346_23349delinsAATGAAT (p.Trp7782_Ala7783delinsTer) rs2067614941
NM_182961.4(SYNE1):c.4310+1G>T
NM_182961.4(SYNE1):c.482_483del (p.Ser160_Ser161insTer) rs1554829141
NM_182961.4(SYNE1):c.4981_4984del (p.Glu1661fs)
NM_182961.4(SYNE1):c.639del (p.His214fs) rs1412791793
NM_182961.4(SYNE1):c.7345del (p.Leu2449fs)
NM_182961.4(SYNE1):c.7494dup (p.Phe2499fs) rs1194460500
NM_182961.4(SYNE1):c.8287C>T (p.Gln2763Ter) rs946657984
NM_194454.3(KRIT1):c.1959_1962dup (p.Val655Ter)
NM_194454.3(KRIT1):c.715C>T (p.Gln239Ter) rs886043300
NM_203446.3(SYNJ1):c.2461+2T>C
NM_203447.4(DOCK8):c.1648C>T (p.Arg550Ter) rs1057518028
Single allele

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