ClinVar Miner

List of variants reported as likely pathogenic by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 314
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HGVS dbSNP
NM_000021.3(PSEN1):c.1276G>C (p.Ala426Pro) rs63751223
NM_000021.3(PSEN1):c.358G>A (p.Glu120Lys) rs63750800
NM_000021.3(PSEN1):c.403A>T (p.Asn135Tyr) rs63750353
NM_000021.3(PSEN1):c.404A>G (p.Asn135Ser) rs63751278
NM_000021.3(PSEN1):c.635C>A (p.Ser212Tyr)
NM_000021.3(PSEN1):c.691G>A (p.Ala231Thr) rs63749836
NM_000021.3(PSEN1):c.697A>G (p.Met233Val) rs63751287
NM_000021.3(PSEN1):c.714C>G (p.Ile238Met) rs1555355289
NM_000021.3(PSEN1):c.799C>T (p.Pro267Ser) rs63751229
NM_000033.3(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.3(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000051.3(ATM):c.1249delA (p.Thr417Profs) rs786203166
NM_000068.3(CACNA1A):c.104del (p.Gly35Alafs)
NM_000068.3(CACNA1A):c.3273_3328del56 (p.Leu1094Hisfs) rs1555752975
NM_000068.3(CACNA1A):c.5143G>A (p.Gly1715Arg) rs1555738200
NM_000070.2(CAPN3):c.145C>T (p.Arg49Cys) rs794726871
NM_000070.2(CAPN3):c.146G>A (p.Arg49His) rs863224958
NM_000070.2(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781
NM_000070.2(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000070.2(CAPN3):c.2440-2A>G rs769688710
NM_000080.3(CHRNE):c.103T>C (p.Tyr35His) rs144169073
NM_000080.3(CHRNE):c.991C>T (p.Arg331Trp) rs121909515
NM_000083.2(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703
NM_000083.2(CLCN1):c.1064G>A (p.Gly355Glu)
NM_000083.2(CLCN1):c.1167-10T>C rs543120965
NM_000083.2(CLCN1):c.1261C>T (p.Arg421Cys) rs756981034
NM_000083.2(CLCN1):c.1262G>A (p.Arg421His) rs780834658
NM_000083.2(CLCN1):c.1262G>T (p.Arg421Leu)
NM_000083.2(CLCN1):c.1399A>G (p.Lys467Glu)
NM_000083.2(CLCN1):c.1401+1G>T rs769861892
NM_000083.2(CLCN1):c.1606G>A (p.Val536Ile) rs777685454
NM_000083.2(CLCN1):c.1616_1617del (p.Thr539Serfs) rs1554438432
NM_000083.2(CLCN1):c.563G>C (p.Gly188Ala)
NM_000083.2(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.2(CLCN1):c.592C>G (p.Leu198Val) rs80356685
NM_000083.2(CLCN1):c.593T>C (p.Leu198Pro)
NM_000083.2(CLCN1):c.698del (p.Gly233Alafs) rs1423567292
NM_000083.2(CLCN1):c.895G>C (p.Val299Leu) rs202179484
NM_000088.3(COL1A1):c.1013G>T (p.Gly338Val) rs1555574249
NM_000088.3(COL1A1):c.256del (p.Val86Serfs)
NM_000091.4(COL4A3):c.1201G>A (p.Gly401Arg)
NM_000091.4(COL4A3):c.1372G>C (p.Gly458Arg) rs757341933
NM_000091.4(COL4A3):c.1928-1G>A rs1364800683
NM_000091.4(COL4A3):c.1933del (p.Arg645Glyfs)
NM_000091.4(COL4A3):c.2593G>A (p.Gly865Ser)
NM_000091.4(COL4A3):c.547-1G>T
NM_000091.4(COL4A3):c.997G>A (p.Gly333Arg)
NM_000092.4(COL4A4):c.1045C>T (p.Arg349Ter) rs534522842
NM_000092.4(COL4A4):c.1697-1G>A
NM_000092.4(COL4A4):c.2039G>A (p.Gly680Asp) rs1553646081
NM_000092.4(COL4A4):c.2100_2102delTGGinsGTGT (p.Ser700Argfs) rs1553644383
NM_000092.4(COL4A4):c.3317G>A (p.Gly1106Asp)
NM_000092.4(COL4A4):c.3577G>T (p.Gly1193Cys)
NM_000092.4(COL4A4):c.3734G>T (p.Gly1245Val) rs1189502123
NM_000092.4(COL4A4):c.4288G>A (p.Gly1430Arg)
NM_000092.4(COL4A4):c.482G>T (p.Gly161Val) rs745672795
NM_000092.4(COL4A4):c.737G>A (p.Gly246Asp)
NM_000092.4(COL4A4):c.871-1G>C rs375450996
NM_000109.3(DMD):c.1700T>C (p.Leu567Pro) rs370644567
NM_000144.4(FXN):c.165+2_165+3insTT
NM_000144.4(FXN):c.385-1G>C rs1554761915
NM_000144.4(FXN):c.483-2A>G rs1554762735
NM_000161.2(GCH1):c.13_19delCCTGTGC (p.Pro5Glyfs) rs1555362905
NM_000161.2(GCH1):c.614T>A (p.Val205Glu)
NM_000161.2(GCH1):c.671A>G (p.Lys224Arg) rs41298442
NM_000162.3(GCK):c.1020-10C>A rs193922257
NM_000162.3(GCK):c.1157T>C (p.Leu386Pro) rs193922268
NM_000162.3(GCK):c.1190G>T (p.Arg397Leu) rs193929375
NM_000162.3(GCK):c.1240A>G (p.Lys414Glu) rs193922272
NM_000162.3(GCK):c.128G>A (p.Arg43His) rs764232985
NM_000162.3(GCK):c.1358C>T (p.Ser453Leu) rs193922283
NM_000162.3(GCK):c.787T>C (p.Ser263Pro) rs193922331
NM_000162.3(GCK):c.907C>T (p.Arg303Trp) rs193922336
NM_000162.4(GCK):c.1133_1149del (p.Ala378Glyfs) rs1554334610
NM_000162.4(GCK):c.127C>A (p.Arg43Ser)
NM_000162.4(GCK):c.128G>C (p.Arg43Pro)
NM_000162.4(GCK):c.185T>C (p.Val62Ala)
NM_000162.4(GCK):c.469G>A (p.Glu157Lys) rs1554335570
NM_000162.4(GCK):c.478G>A (p.Asp160Asn) rs1554335566
NM_000162.4(GCK):c.572G>A (p.Arg191Gln) rs886042610
NM_000162.4(GCK):c.682A>G (p.Thr228Ala) rs1332966015
NM_000162.4(GCK):c.819T>A (p.Tyr273Ter)
NM_000162.4(GCK):c.908G>T (p.Arg303Leu) rs1312678560
NM_000162.4(GCK):c.911T>C (p.Leu304Pro) rs1554334894
NM_000166.5(GJB1):c.175G>C (p.Gly59Arg) rs1555937077
NM_000166.5(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_000166.5(GJB1):c.602del (p.Cys201Serfs)
NM_000166.5(GJB1):c.842dup (p.Ala282Glyfs)
NM_000170.2(GLDC):c.2607dup (p.Phe870Leufs) rs1554642300
NM_000217.3(KCNA1):c.913C>T (p.Leu305Phe) rs1555085761
NM_000217.3(KCNA1):c.941T>C (p.Ile314Thr) rs1085308020
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000296.3(PKD1):c.11450G>A (p.Gly3817Asp) rs1555445740
NM_000296.3(PKD1):c.11567dup (p.Tyr3856Terfs) rs1555445579
NM_000296.3(PKD1):c.1396G>A (p.Val466Met) rs2855341
NM_000296.3(PKD1):c.2269C>T (p.Gln757Ter)
NM_000296.3(PKD1):c.2804_2829del (p.Leu935Profs)
NM_000296.3(PKD1):c.3719_3721delACA (p.Asn1240del)
NM_000296.3(PKD1):c.4165_4166del (p.Arg1389Alafs) rs1555456208
NM_000296.3(PKD1):c.4894_4901dup (p.Leu1635Terfs)
NM_000296.3(PKD1):c.5245del (p.Val1749Tyrfs) rs1555455279
NM_000296.3(PKD1):c.6587_6593dup (p.Gly2199Alafs)
NM_000296.3(PKD1):c.8483T>C (p.Leu2828Pro) rs1555451143
NM_000296.3(PKD1):c.8978T>C (p.Leu2993Pro) rs1555450487
NM_000296.3(PKD1):c.9404C>T (p.Thr3135Met) rs1555449635
NM_000297.3(PKD2):c.2240+1G>A rs1553927783
NM_000297.3(PKD2):c.964C>T (p.Arg322Trp) rs1553925453
NM_000304.3(PMP22):c.138delC (p.Ser47Glnfs) rs864622180
NM_000304.3(PMP22):c.228C>G (p.Ser76Arg) rs1555565283
NM_000304.3(PMP22):c.235T>A (p.Ser79Thr) rs863225027
NM_000304.3(PMP22):c.431C>G (p.Pro144Arg) rs1555564032
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.5113T>A (p.Phe1705Ile) rs1064794243
NM_000338.2(SLC12A1):c.2978del (p.Glu993Glyfs)
NM_000339.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380
NM_000339.2(SLC12A3):c.938C>T (p.Ala313Val) rs140551719
NM_000344.3(SMN1):c.109dup (p.Thr37Asnfs)
NM_000344.3(SMN1):c.135dup (p.Ala46Serfs) rs1554081951
NM_000344.3(SMN1):c.460C>T (p.Gln154Ter)
NM_000344.3(SMN1):c.93_96dup (p.Ile33Terfs) rs1554081950
NM_000349.2(STAR):c.745-1G>C rs374297649
NM_000352.4(ABCC8):c.4136G>A (p.Arg1379His)
NM_000352.4(ABCC8):c.4178G>A (p.Arg1393His) rs769279368
NM_000352.4(ABCC8):c.928G>A (p.Asp310Asn)
NM_000368.4(TSC1):c.1125dup (p.Val376Serfs) rs1554817227
NM_000368.4(TSC1):c.211-7T>G rs1554820321
NM_000368.4(TSC1):c.456del (p.Asp153Ilefs) rs1554819896
NM_000371.3(TTR):c.165G>T (p.Lys55Asn)
NM_000371.3(TTR):c.349G>T (p.Ala117Ser) rs267607161
NM_000383.3(AIRE):c.1295_1296insA (p.Arg433Alafs)
NM_000388.3(CASR):c.707G>T (p.Cys236Phe) rs1057518616
NM_000388.3(CASR):c.73C>T (p.Arg25Ter) rs201633414
NM_000388.3(CASR):c.823_824del (p.Asp275Serfs) rs1553766794
NM_000435.2(NOTCH3):c.128G>A (p.Cys43Tyr) rs1555730204
NM_000435.2(NOTCH3):c.163T>C (p.Cys55Arg)
NM_000435.2(NOTCH3):c.2956T>G (p.Cys986Gly)
NM_000435.2(NOTCH3):c.351C>G (p.Cys117Trp)
NM_000435.2(NOTCH3):c.383G>T (p.Cys128Phe)
NM_000435.2(NOTCH3):c.437G>T (p.Cys146Phe) rs1236699193
NM_000435.2(NOTCH3):c.953G>A (p.Cys318Tyr)
NM_000447.2(PSEN2):c.364A>C (p.Thr122Pro) rs63749851
NM_000454.4(SOD1):c.50G>C (p.Gly17Ala)
NM_000457.4(HNF4A):c.758G>A (p.Arg253Gln) rs1555816615
NM_000457.4(HNF4A):c.934C>T (p.Arg312Cys) rs1555817727
NM_000458.3(HNF1B):c.789del (p.Leu264Terfs)
NM_000458.3(HNF1B):c.884G>A (p.Arg295His) rs886043813
NM_000475.4(NR0B1):c.542_557del (p.Pro181Argfs)
NM_000478.5(ALPL):c.1250A>G (p.Asn417Ser) rs121918014
NM_000478.5(ALPL):c.522delC (p.Ser175Alafs) rs750174638
NM_000484.3(APP):c.2032G>C (p.Asp678His) rs63750064
NM_000484.3(APP):c.2143G>A (p.Val715Met) rs63750734
NM_000486.5(AQP2):c.190G>A (p.Gly64Arg) rs104894326
NM_000486.5(AQP2):c.97_119del (p.Asn33Cysfs) rs772201159
NM_000495.4(COL4A5):c.1779+1G>A
NM_000495.4(COL4A5):c.5030G>A (p.Arg1677Gln) rs104886308
NM_000495.4(COL4A5):c.983del (p.Gly328Valfs) rs1556407684
NM_000497.3(CYP11B1):c.1331G>A (p.Gly444Asp) rs779103938
NM_000497.3(CYP11B1):c.954G>A (p.Thr318=) rs753774484
NM_000500.9(CYP21A2):c.922T>G (p.Leu308Val)
NM_000525.3(KCNJ11):c.160C>T (p.Arg54Cys) rs375848765
NM_000525.3(KCNJ11):c.532del (p.Ala178Leufs) rs1554901775
NM_000525.3(KCNJ11):c.774C>A (p.Tyr258Ter)
NM_000527.4(LDLR):c.1783C>T (p.Arg595Trp) rs373371572
NM_000527.4(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000530.6(MPZ):c.418T>A (p.Ser140Thr) rs572010627
NM_000530.6(MPZ):c.706_708delAAG (p.Lys236del) rs755446743
NM_000530.7(MPZ):c.303G>A (p.Trp101Ter)
NM_000530.7(MPZ):c.385G>A (p.Val129Ile) rs201156403
NM_000530.7(MPZ):c.409G>A (p.Gly137Ser) rs121913588
NM_000533.3(PLP1):c.789C>A (p.Tyr263Ter) rs1556273075
NM_000545.6(HNF1A):c.494G>A (p.Trp165Ter) rs1555211436
NM_000545.6(HNF1A):c.586del (p.Thr196Profs)
NM_000545.6(HNF1A):c.824_826del (p.Glu275del)
NM_000545.6(HNF1A):c.956-1G>A
NM_000548.3(TSC2):c.2410T>C (p.Cys804Arg) rs137853995
NM_000548.4(TSC2):c.1229T>G (p.Leu410Arg) rs137854298
NM_000548.4(TSC2):c.2459_2461del (p.Ile820del) rs137854128
NM_000548.4(TSC2):c.3089T>G (p.Met1030Arg)
NM_000548.4(TSC2):c.3095G>C (p.Arg1032Pro) rs45491698
NM_000548.4(TSC2):c.3164del (p.Gly1055Alafs) rs1555510519
NM_000548.4(TSC2):c.3611G>A (p.Gly1204Glu) rs45462194
NM_000548.4(TSC2):c.3783del (p.Lys1262Asnfs) rs1555512548
NM_000548.4(TSC2):c.4369del (p.Arg1457Glyfs)
NM_000548.4(TSC2):c.4569+1G>A rs1060500972
NM_000548.4(TSC2):c.478C>G (p.Leu160Val) rs45517109
NM_000548.4(TSC2):c.4938_4946del (p.Ser1647_Val1649del) rs1555438624
NM_000548.4(TSC2):c.5138G>C (p.Arg1713Pro) rs45517395
NM_000702.3(ATP1A2):c.117+1G>A rs1553244022
NM_000702.3(ATP1A2):c.2698G>A (p.Gly900Arg) rs1553245908
NM_000702.3(ATP1A2):c.3005G>A (p.Arg1002Gln)
NM_000784.3(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102
NM_000806.5(GABRA1):c.857-2A>G
NM_001009944.2(PKD1):c.5913delGinsACC (p.Ser1972Profs)
NM_001009944.2(PKD1):c.8545delG (p.Ala2849Profs) rs1555451093
NM_001009944.3(PKD1):c.12003+14_12003+33del
NM_001110556.1(FLNA):c.1027_1028del (p.Ser343Argfs) rs1557179349
NM_001127221.1(CACNA1A):c.4075C>T (p.Arg1359Trp) rs1555745461
NM_001127221.1(CACNA1A):c.4982G>A (p.Arg1661His) rs121908216
NM_001127221.1(CACNA1A):c.4991G>A (p.Arg1664Gln) rs121908247
NM_001127660.1(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_001146261.2(SYT14):c.2T>C (p.Met1Thr) rs368545452
NM_001168272.1(ITPR1):c.800C>G (p.Thr267Arg)
NM_001199291.2(HSD17B4):c.68+2T>A
NM_001267550.2(TTN):c.106375-2A>G rs1553482872
NM_001267550.2(TTN):c.31927+1G>T rs1553852989
NM_001267550.2(TTN):c.634C>T (p.Gln212Ter) rs1554042042
NM_001271208.1(NEB):c.1161C>G (p.Tyr387Ter)
NM_001277269.1(OTOG):c.3445-2A>G
NM_001277269.1(OTOG):c.535delG (p.Val179Trpfs) rs876657657
NM_001458.4(FLNC):c.8076C>A (p.Tyr2692Ter)
NM_001845.5(COL4A1):c.1040G>T (p.Gly347Val)
NM_001845.5(COL4A1):c.3236G>A (p.Gly1079Glu)
NM_001845.5(COL4A1):c.518G>A (p.Gly173Asp) rs567124920
NM_001849.3(COL6A2):c.2646del (p.Phe882Leufs) rs1555877282
NM_001927.3(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_002087.3(GRN):c.6G>A (p.Trp2Ter) rs1555610855
NM_002087.3(GRN):c.708+6_708+9del
NM_002292.3(LAMB2):c.1599-1G>T rs1330915067
NM_002693.2(POLG):c.2246T>C (p.Phe749Ser) rs202037973
NM_002739.4(PRKCG):c.356C>T (p.Ser119Phe) rs386134163
NM_003000.2(SDHB):c.380T>G (p.Ile127Ser) rs786201095
NM_003000.2(SDHB):c.418G>T (p.Val140Phe) rs267607032
NM_003119.3(SPG7):c.376G>C (p.Glu126Gln) rs912983346
NM_003361.3(UMOD):c.230G>C (p.Cys77Ser) rs121917768
NM_003494.3(DYSF):c.1852G>C (p.Gly618Arg) rs201049092
NM_003494.3(DYSF):c.5077C>T (p.Arg1693Trp) rs863225021
NM_003850.2(SUCLA2):c.308C>A (p.Ala103Asp)
NM_003919.2(SGCE):c.551T>C (p.Leu184Pro) rs1064794321
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004006.2(DMD):c.1304_1331+10del rs1556875089
NM_004006.2(DMD):c.5586+1G>A rs1557292599
NM_004320.4(ATP2A1):c.2011C>T (p.Arg671Ter) rs1555516994
NM_004369.3(COL6A3):c.6890G>C (p.Gly2297Ala) rs886043576
NM_004562.2(PRKN):c.1244C>A (p.Thr415Asn)
NM_004562.2(PRKN):c.719C>T (p.Thr240Met) rs137853054
NM_004984.3(KIF5A):c.827A>G (p.Tyr276Cys) rs121434443
NM_005529.6(HSPG2):c.1219dup (p.Gln407Profs) rs763945561
NM_005591.3(MRE11):c.1015A>T (p.Lys339Ter) rs984874083
NM_005629.3(SLC6A8):c.946dup (p.Ser316Phefs)
NM_005677.3(COLQ):c.1321A>G (p.Thr441Ala) rs375215281
NM_005910.5(MAPT):c.1165G>A (p.Gly389Arg) rs63750512
NM_005910.5(MAPT):c.915+19C>G rs63750162
NM_005912.2(MC4R):c.913C>T (p.Arg305Trp)
NM_006731.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_006790.2(MYOT):c.116C>T (p.Ser39Phe) rs121908461
NM_007126.4(VCP):c.572G>A (p.Arg191Gln) rs121909334
NM_007171.3(POMT1):c.2005G>A (p.Ala669Thr) rs119462987
NM_007171.3(POMT1):c.574_575del (p.Leu192Aspfs) rs1554773974
NM_007217.3(PDCD10):c.150+1G>A rs1553762839
NM_013382.5(POMT2):c.1863_1864del (p.Ala623Thrfs) rs1555351849
NM_014363.5(SACS):c.10226C>G (p.Ser3409Ter)
NM_014363.5(SACS):c.7162_7163delAC (p.Thr2388Argfs) rs1555251539
NM_014625.3(NPHS2):c.28dup (p.Arg10Lysfs) rs1553316670
NM_014625.3(NPHS2):c.790G>C (p.Glu264Gln) rs369697947
NM_014625.3(NPHS2):c.951del (p.Ala318Profs) rs1553312368
NM_014845.5(FIG4):c.2467C>T (p.Gln823Ter) rs745790694
NM_014855.2(AP5Z1):c.355_358dup (p.Leu120Serfs) rs1554257381
NM_014874.3(MFN2):c.1126A>G (p.Met376Val) rs863224967
NM_014874.3(MFN2):c.1A>G (p.Met1Val)
NM_014874.3(MFN2):c.436C>T (p.Leu146Phe) rs863224969
NM_014946.3(SPAST):c.1209del (p.Phe404Leufs) rs1057520127
NM_014946.3(SPAST):c.1730T>G (p.Met577Arg) rs1553321196
NM_014946.3(SPAST):c.363del (p.Lys121Asnfs) rs1553394622
NM_014946.3(SPAST):c.962_974del (p.Asp321Valfs) rs1553315223
NM_015046.5(SETX):c.5591_5592delAA (p.Gln1864Argfs) rs776470487
NM_015046.5(SETX):c.7121_7122delTG (p.Val2374Glyfs) rs765371601
NM_015046.6(SETX):c.6654+1G>A rs1554806979
NM_015046.6(SETX):c.7288-2A>G rs1554801819
NM_015295.2(SMCHD1):c.5782dup (p.Ser1928Lysfs) rs1555658855
NM_015560.2(OPA1):c.1009C>G (p.His337Asp) rs1553877591
NM_015560.2(OPA1):c.1462G>A (p.Gly488Arg) rs1553878554
NM_015560.2(OPA1):c.2818+3G>C rs1553788117
NM_015560.2(OPA1):c.870+5G>A rs754576717
NM_015560.2(OPA1):c.871-1G>T
NM_015915.4(ATL1):c.1228G>A (p.Gly410Arg) rs1555365854
NM_015915.4(ATL1):c.563A>G (p.Gln188Arg) rs1555364153
NM_017534.5(MYH2):c.1275del (p.Asn425Lysfs)
NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869
NM_017890.4(VPS13B):c.3083-1G>A
NM_018075.4(ANO10):c.1797+1G>A
NM_018075.4(ANO10):c.2T>C (p.Met1Thr) rs531656357
NM_018319.3(TDP1):c.1731_1753+646del
NM_018319.3(TDP1):c.2T>G (p.Met1Arg)
NM_020247.4(COQ8A):c.148del (p.Gln50Argfs) rs1553276474
NM_020451.2(SELENON):c.1397G>A (p.Arg466Gln) rs121908185
NM_022489.3(INF2):c.326T>G (p.Met109Arg) rs1555373368
NM_024570.3(RNASEH2B):c.698+1G>A rs367915667
NM_024577.3(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462
NM_024596.4(MCPH1):c.1625T>G (p.Leu542Ter)
NM_025137.3(SPG11):c.237C>A (p.Cys79Ter)
NM_025137.3(SPG11):c.3000delT (p.Leu1001Cysfs) rs1555454488
NM_030582.3(COL18A1):c.2133delC (p.Pro714Leufs) rs778909108
NM_030665.3(RAI1):c.1321C>T (p.Gln441Ter) rs1555565108
NM_033071.3(SYNE1):c.15684delC (p.Met5229Cysfs) rs1057518603
NM_033071.3(SYNE1):c.22496_22550del55 (p.Glu7499Valfs) rs1554558620
NM_033071.3(SYNE1):c.310-1G>T
NM_033071.3(SYNE1):c.503_504del (p.Ser168Terfs) rs1554829141
NM_033380.2(COL4A5):c.1111G>T (p.Gly371Ter) rs878853015
NM_033380.2(COL4A5):c.1340-1G>A
NM_033380.2(COL4A5):c.2024_2029del (p.Gly675_Asp676del)
NM_033380.2(COL4A5):c.3238G>C (p.Gly1080Arg) rs1556421731
NM_033380.2(COL4A5):c.3427G>T (p.Gly1143Cys) rs104886228
NM_033507.1(GCK):c.1151C>T (p.Ser384Leu) rs777870079
NM_133378.4(TTN):c.25513C>T (p.Gln8505Ter) rs746721983
NM_145207.2(SPATA5):c.1A>C (p.Met1Leu) rs552219028
NM_170707.3(LMNA):c.1412G>A (p.Arg471His) rs267607578
NM_170707.3(LMNA):c.1583C>A (p.Thr528Lys) rs57629361
NM_170707.3(LMNA):c.695G>A (p.Gly232Glu) rs57207746
NM_173201.3(ATP2A1):c.2758C>T (p.Gln920Ter) rs897301304
NM_182961.3(SYNE1):c.13390C>T (p.Gln4464Ter) rs1554471992
NM_194456.1(KRIT1):c.715C>T (p.Gln239Ter) rs886043300
NM_198994.2(TGM6):c.841del (p.Leu281Cysfs) rs1555799865
NM_213599.2(ANO5):c.172C>T (p.Arg58Trp) rs201725369

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