ClinVar Miner

List of variants studied for autosomal recessive disease by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 374
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HGVS dbSNP gnomAD frequency
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala) rs34154371 0.01899
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp) rs17472401 0.01606
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570 0.01518
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_020989.4(CRYGC):c.143G>A (p.Arg48His) rs61751949 0.01047
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu) rs2234917 0.00481
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg) rs148509395 0.00356
NM_139281.3(WDR36):c.1177G>A (p.Ala393Thr) rs35703638 0.00326
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000070.3(CAPN3):c.1746-20C>G rs201892814 0.00320
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr) rs140811086 0.00280
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621 0.00275
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699 0.00249
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528 0.00149
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878 0.00103
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu) rs139398993 0.00077
NM_016953.4(PDE11A):c.171del (p.Thr58fs) rs529789124 0.00056
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) rs149916178 0.00054
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00049
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_001130987.2(DYSF):c.2697+1G>A rs140108514 0.00046
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
NM_000441.2(SLC26A4):c.1544+9C>T rs368970459 0.00021
NM_001813.3(CENPE):c.80C>T (p.Ala27Val) rs533108216 0.00021
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_005529.7(HSPG2):c.12520C>T (p.Arg4174Cys) rs199899258 0.00017
NM_032237.5(POMK):c.136C>T (p.Arg46Ter) rs202036744 0.00017
NM_000070.3(CAPN3):c.*534T>C rs772498665 0.00016
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258 0.00016
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) rs111033260 0.00012
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777 0.00012
NM_018451.5(CENPJ):c.634G>T (p.Glu212Ter) rs765113367 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_017739.4(POMGNT1):c.1895+1G>T rs386834024 0.00009
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro) rs193251130 0.00009
NM_001384140.1(PCDH15):c.4214G>A (p.Arg1405His) rs143538460 0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter) rs104894471 0.00007
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556 0.00006
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln) rs121434548 0.00006
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063 0.00006
NM_006642.5(SDCCAG8):c.740+356C>T rs397515337 0.00006
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_213599.3(ANO5):c.749A>G (p.Tyr250Cys) rs781734224 0.00006
NM_000492.4(CFTR):c.3469-20T>C rs373002889 0.00005
NM_001384140.1(PCDH15):c.131T>C (p.Val44Ala) rs750302536 0.00005
NM_020987.5(ANK3):c.3139G>A (p.Val1047Ile) rs535526499 0.00005
NM_001098537.3(PNPLA7):c.1889+1G>A rs767961762 0.00004
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) rs387906312 0.00004
NM_001384140.1(PCDH15):c.833G>A (p.Arg278His) rs369442293 0.00004
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser) rs72547571 0.00003
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481 0.00003
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_001384140.1(PCDH15):c.3101G>A (p.Arg1034His) rs907693214 0.00003
NM_012210.4(TRIM32):c.1648T>C (p.Phe550Leu) rs752860146 0.00003
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter) rs121908175 0.00003
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290 0.00002
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn) rs72547568 0.00002
NM_001205254.2(OCLN):c.1037+1G>A rs748442113 0.00002
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776 0.00002
NM_001384140.1(PCDH15):c.2751+2T>C rs754543131 0.00002
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121 0.00002
NM_001384140.1(PCDH15):c.4102G>T (p.Glu1368Ter) rs779165268 0.00002
NM_001384140.1(PCDH15):c.5054T>C (p.Val1685Ala) rs755487351 0.00002
NM_001384140.1(PCDH15):c.841A>G (p.Thr281Ala) rs773843633 0.00002
NM_012210.4(TRIM32):c.1181G>A (p.Arg394His) rs121434447 0.00002
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp) rs727502855 0.00002
NM_153816.6(SNX14):c.331C>T (p.Arg111Ter) rs760752847 0.00002
NM_000070.3(CAPN3):c.1194-9A>G rs374665929 0.00001
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys) rs776043976 0.00001
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His) rs863224956 0.00001
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys) rs1274808359 0.00001
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) rs794726871 0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418 0.00001
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln) rs398123143 0.00001
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys) rs764370512 0.00001
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583 0.00001
NM_000070.3(CAPN3):c.946-29del rs1595826640 0.00001
NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg) rs767000881 0.00001
NM_000083.3(CLCN1):c.1471+1G>A rs375596425 0.00001
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter) rs1184563885 0.00001
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg) rs201049092 0.00001
NM_001130987.2(DYSF):c.884A>G (p.Asn295Ser) rs777785781 0.00001
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter) rs267606641 0.00001
NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter) rs1009131948 0.00001
NM_001267550.2(TTN):c.35678C>G (p.Thr11893Ser) rs750832804 0.00001
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter) rs878854299 0.00001
NM_001267550.2(TTN):c.35828dup (p.Glu11945Argfs) rs765879488 0.00001
NM_001267550.2(TTN):c.58195C>T (p.Arg19399Ter) rs768073446 0.00001
NM_001267550.2(TTN):c.61921C>T (p.Arg20641Ter) rs878854324 0.00001
NM_001378454.1(ALMS1):c.11648_11649insGTTA (p.Asn3884fs) rs760264695 0.00001
NM_001384140.1(PCDH15):c.1583T>A (p.Val528Asp) rs267606932 0.00001
NM_001384140.1(PCDH15):c.1997+1G>A rs763797356 0.00001
NM_001384140.1(PCDH15):c.2138A>G (p.Asn713Ser) rs190878515 0.00001
NM_001384140.1(PCDH15):c.2419dup (p.Ile807fs) rs781148814 0.00001
NM_001384140.1(PCDH15):c.2539G>A (p.Asp847Asn) rs751941551 0.00001
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter) rs1057516342 0.00001
NM_001384140.1(PCDH15):c.2971C>T (p.Arg991Ter) rs754391973 0.00001
NM_001384140.1(PCDH15):c.3122+1G>T rs982893820 0.00001
NM_001384140.1(PCDH15):c.3358C>T (p.Arg1120Ter) rs773404494 0.00001
NM_001384140.1(PCDH15):c.3433C>T (p.Gln1145Ter) rs1200451014 0.00001
NM_001384140.1(PCDH15):c.3717+2dup rs1248401224 0.00001
NM_001384140.1(PCDH15):c.3806+2T>C rs756692340 0.00001
NM_001384140.1(PCDH15):c.3983+1G>T rs758921360 0.00001
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter) rs137853003 0.00001
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln) rs767966376 0.00001
NM_001384140.1(PCDH15):c.4118C>T (p.Thr1373Ile) rs756490783 0.00001
NM_001384140.1(PCDH15):c.4211+2T>G rs753832779 0.00001
NM_001384140.1(PCDH15):c.4246C>A (p.Gln1416Lys) rs765215862 0.00001
NM_001384140.1(PCDH15):c.556C>T (p.Gln186Ter) rs1384677442 0.00001
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter) rs137853001 0.00001
NM_001384140.1(PCDH15):c.92-528C>T rs190773725 0.00001
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714 0.00001
NM_003673.4(TCAP):c.75G>A (p.Trp25Ter) rs778851652 0.00001
NM_004813.4(PEX16):c.680G>A (p.Arg227Gln) rs754024503 0.00001
NM_005529.7(HSPG2):c.8316+1G>A rs927473035 0.00001
NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn) rs111033570 0.00001
NM_014875.3(KIF14):c.1375G>A (p.Gly459Arg) rs1660302910 0.00001
NM_015474.4(SAMHD1):c.490C>T (p.Arg164Ter) rs267607027 0.00001
NM_016529.6(ATP8A2):c.1756C>T (p.Arg586Ter) rs755133567 0.00001
NM_018136.5(ASPM):c.4849C>T (p.Arg1617Ter) rs772050241 0.00001
NM_031885.5(BBS2):c.345+5G>A rs1430976492 0.00001
NM_138694.4(PKHD1):c.1690C>T (p.Arg564Ter) rs765251347 0.00001
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) rs745770404 0.00001
NM_153240.5(NPHP3):c.1174C>T (p.Arg392Ter) rs1485445500 0.00001
NM_153816.6(SNX14):c.2670del (p.Lys889_Cys890insTer) rs774694340 0.00001
NM_213599.3(ANO5):c.2636T>C (p.Phe879Ser) rs1459697236 0.00001
GRCh38/hg38 13q12.12(chr13:23315907-23322480)x0
GRCh38/hg38 13q12.12(chr13:23320540-23320858)x0
GRCh38/hg38 13q12.13(chr13:25567155-25574530)x0
GRCh38/hg38 15q15.1(chr15:42349336-42378932)x1
GRCh38/hg38 17q21.33(chr17:50169242-50170421)x0
GRCh38/hg38 2p13.2(chr2:71503117-71517137)x0
GRCh38/hg38 2p13.2(chr2:71643868-71644161)x0
GRCh38/hg38 2q13(chr2:110123182-110205164)x0
GRCh38/hg38 2q21.3(chr2:135162318-135164794)x1
GRCh38/hg38 4q22.1(chr4:92303869-92304842)x0
NM_000023.4(SGCA):c.246C>A (p.Ser82Arg) rs1598265282
NM_000023.4(SGCA):c.37+5G>T
NM_000070.3(CAPN3):c.1030-1G>A rs1555421263
NM_000070.3(CAPN3):c.1043del (p.Gly348fs) rs781013226
NM_000070.3(CAPN3):c.1106G>A (p.Trp369Ter) rs1595828703
NM_000070.3(CAPN3):c.1193+6T>A rs1555421532
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg) rs773827877
NM_000070.3(CAPN3):c.1354+129T>A
NM_000070.3(CAPN3):c.146G>A (p.Arg49His) rs863224958
NM_000070.3(CAPN3):c.1897C>T (p.Gln633Ter) rs1595844413
NM_000070.3(CAPN3):c.2212C>T (p.Gln738Ter) rs1595847257
NM_000070.3(CAPN3):c.2380+2T>G rs761935462
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter) rs121434545
NM_000070.3(CAPN3):c.483del (p.Ile162fs) rs863224963
NM_000070.3(CAPN3):c.484A>T (p.Ile162Phe) rs1595819812
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys) rs1555420468
NM_000070.3(CAPN3):c.533T>C (p.Ile178Thr) rs794727615
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000070.3(CAPN3):c.679G>A (p.Ala227Thr) rs1595822648
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu) rs1555420634
NM_000163.5(GHR):c.266+1G>A rs1009412984
NM_000231.3(SGCG):c.505+2T>C rs1593216248
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr) rs104894422
NM_000232.5(SGCB):c.278G>C (p.Gly93Ala) rs1018529334
NM_000271.5(NPC1):c.1610T>C (p.Phe537Ser) rs747310316
NM_000271.5(NPC1):c.3293C>T (p.Thr1098Ile) rs746285672
NM_000302.4(PLOD1):c.1651-2A>C rs565513365
NM_000302.4(PLOD1):c.975+2_975+3insTT
NM_000382.3(ALDH3A2):c.620A>C (p.Glu207Ala)
NM_000466.3(PEX1):c.1099del (p.Gln367fs) rs1403870448
NM_000543.5(SMPD1):c.151_154del (p.Asp51fs) rs1057516949
NM_001009944.3(PKD1):c.377C>T (p.Pro126Leu) rs1567219166
NM_001009944.3(PKD1):c.6656C>T (p.Pro2219Leu) rs1567191874
NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter) rs972221242
NM_001044385.3(TMEM237):c.80-2A>G rs1445957469
NM_001048166.1(STIL):c.3640G>T (p.Glu1214Ter)
NM_001083961.2(WDR62):c.1589dup (p.Glu531fs)
NM_001101426.4(CRPPA):c.376C>T (p.Arg126Cys) rs1472549168
NM_001128431.4(SLC39A14):c.751-9C>G rs1039778197
NM_001130987.2(DYSF):c.1490A>T (p.Asp497Val) rs1573811118
NM_001130987.2(DYSF):c.1615T>C (p.Cys539Arg) rs1573929182
NM_001130987.2(DYSF):c.3113del (p.Pro1038fs) rs753711667
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter) rs369607332
NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter) rs746315830
NM_001130987.2(DYSF):c.3756del (p.Thr1251_Tyr1252insTer) rs1574264671
NM_001130987.2(DYSF):c.3762del (p.Asp1255fs) rs758107024
NM_001130987.2(DYSF):c.3991C>T (p.Gln1331Ter) rs1558613592
NM_001130987.2(DYSF):c.4179del (p.Lys1394fs) rs1574340607
NM_001130987.2(DYSF):c.4221+5del rs1574341049
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs) rs398123786
NM_001130987.2(DYSF):c.4429G>A (p.Asp1477Asn) rs767788624
NM_001130987.2(DYSF):c.4568C>A (p.Ser1523Tyr) rs1572921644
NM_001130987.2(DYSF):c.4691del (p.Phe1564fs) rs1572994572
NM_001130987.2(DYSF):c.4822C>T (p.Gln1608Ter) rs1573009747
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) rs863225021
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys) rs786205084
NM_001130987.2(DYSF):c.5727G>T (p.Arg1909Ser) rs1336670524
NM_001130987.2(DYSF):c.5921C>T (p.Pro1974Leu) rs1573176526
NM_001130987.2(DYSF):c.850A>G (p.Thr284Ala) rs1573658295
NM_001130987.2(DYSF):c.951+3_951+4del rs1573663867
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs) rs1786504555
NM_001134831.2(AHI1):c.2267G>T (p.Gly756Val) rs372012542
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001134831.2(AHI1):c.2573T>C (p.Leu858Pro) rs1583187059
NM_001160372.4(TRAPPC9):c.1623-1G>A
NM_001160372.4(TRAPPC9):c.2815dup (p.Ala939fs)
NM_001160372.4(TRAPPC9):c.431_446del (p.Val144fs)
NM_001205254.2(OCLN):c.173_194del (p.Trp58fs) rs797045841
NM_001267550.2(TTN):c.101789del (p.Leu33930fs) rs1575285509
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter) rs534484592
NM_001267550.2(TTN):c.105854dup (p.Pro35286fs)
NM_001267550.2(TTN):c.107163_107167del (p.Phe35721fs) rs794727544
NM_001267550.2(TTN):c.107312_107315del (p.Lys35771fs)
NM_001267550.2(TTN):c.107351C>G (p.Ser35784Ter) rs1575185742
NM_001267550.2(TTN):c.107889del (p.Lys35963fs) rs281864930
NM_001267550.2(TTN):c.16055-3C>G
NM_001267550.2(TTN):c.29621_29624del (p.Glu9874fs) rs777924443
NM_001267550.2(TTN):c.30440A>C (p.Tyr10147Ser) rs1577672002
NM_001267550.2(TTN):c.32274_32277del (p.Glu10759fs)
NM_001267550.2(TTN):c.35041G>T (p.Glu11681Ter) rs557526069
NM_001267550.2(TTN):c.37178dup (p.Pro12394fs) rs2064831878
NM_001267550.2(TTN):c.40652del (p.Pro13551fs)
NM_001267550.2(TTN):c.44364del (p.Tyr14789fs) rs397517576
NM_001267550.2(TTN):c.47398_47402dup (p.Ser15802fs)
NM_001267550.2(TTN):c.59205del (p.Glu19735fs) rs397517643
NM_001267550.2(TTN):c.89053A>T (p.Lys29685Ter)
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs) rs779129892
NM_001267550.2(TTN):c.9189_9190del (p.His3063_Ile3064insTer)
NM_001267727.2(ARSG):c.663_664del (p.Lys222fs)
NM_001351132.2(PEX5):c.138del (p.Ser47fs)
NM_001351132.2(PEX5):c.140_147+36del
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) rs1564493599
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter) rs770558150
NM_001378454.1(ALMS1):c.833_834del (p.Phe278fs) rs1671340542
NM_001378615.1(CC2D2A):c.2993AAG[2] (p.Glu1000del) rs764874938
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001378615.1(CC2D2A):c.4552C>T (p.Arg1518Trp) rs767260373
NM_001384140.1(PCDH15):c.1209T>G (p.Tyr403Ter) rs759187261
NM_001384140.1(PCDH15):c.1401del (p.Gln467fs) rs1193650682
NM_001384140.1(PCDH15):c.1440+2T>C rs1363688830
NM_001384140.1(PCDH15):c.1441-2A>C rs758482449
NM_001384140.1(PCDH15):c.1456G>A (p.Gly486Ser) rs1196401374
NM_001384140.1(PCDH15):c.1529del (p.Pro510fs) rs767847479
NM_001384140.1(PCDH15):c.158-2A>T rs1304228309
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter) rs1057517251
NM_001384140.1(PCDH15):c.1784+1G>T
NM_001384140.1(PCDH15):c.180G>A (p.Met60Ile)
NM_001384140.1(PCDH15):c.1830_1833del (p.Asn610fs) rs1057517261
NM_001384140.1(PCDH15):c.1863_1864dup (p.Ser622fs)
NM_001384140.1(PCDH15):c.1924G>A (p.Asp642Asn) rs1455035148
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del) rs483352837
NM_001384140.1(PCDH15):c.2487dup (p.Glu830fs) rs757027638
NM_001384140.1(PCDH15):c.2624C>T (p.Ser875Leu)
NM_001384140.1(PCDH15):c.2754dup (p.Met919fs)
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs) rs758685587
NM_001384140.1(PCDH15):c.2868+5G>A rs757993503
NM_001384140.1(PCDH15):c.3029A>G (p.Asp1010Gly) rs776416750
NM_001384140.1(PCDH15):c.3232+1G>A
NM_001384140.1(PCDH15):c.3475dup (p.Met1159fs) rs746865307
NM_001384140.1(PCDH15):c.3501+2T>C rs757418440
NM_001384140.1(PCDH15):c.3717+1G>T rs748706627
NM_001384140.1(PCDH15):c.3718-2A>G rs1307471318
NM_001384140.1(PCDH15):c.3761dup (p.Asn1254fs)
NM_001384140.1(PCDH15):c.4127C>A (p.Ala1376Asp) rs752371584
NM_001384140.1(PCDH15):c.4310C>T (p.Pro1437Leu)
NM_001384140.1(PCDH15):c.4323_4328del (p.Pro1442_Pro1443del)
NM_001384140.1(PCDH15):c.440T>G (p.Phe147Cys)
NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs) rs766484375
NM_001384140.1(PCDH15):c.706-3_717del rs769348776
NM_001384140.1(PCDH15):c.875C>G (p.Pro292Arg) rs138744579
NM_001384140.1(PCDH15):c.985G>A (p.Gly329Arg)
NM_002161.6(IARS1):c.2229+5G>A
NM_002180.3(IGHMBP2):c.1235+600_1235+601insCTGGAGCCCTGATGCG
NM_002180.3(IGHMBP2):c.256+138A>G
NM_003383.5(VLDLR):c.1374del (p.Glu460fs) rs1586653366
NM_003383.5(VLDLR):c.1962+2T>C rs1563764078
NM_003384.3(VRK1):c.397C>G (p.Arg133Gly) rs387906830
NM_005876.5(SPEG):c.2183del (p.Leu728fs) rs1575065895
NM_005876.5(SPEG):c.8872C>T (p.Arg2958Ter)
NM_005876.5(SPEG):c.8965_8989dup (p.Val2997fs) rs1575201712
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys) rs587784483
NM_006019.4(TCIRG1):c.702del (p.Ile235fs)
NM_006314.3(CNKSR1):c.851del (p.Pro284fs) rs781114848
NM_006618.5(KDM5B):c.712-4del rs558975598
NM_006642.5(SDCCAG8):c.1120C>T (p.Arg374Ter) rs770084716
NM_006796.3(AFG3L2):c.1749G>A (p.Trp583Ter)
NM_006946.4(SPTBN2):c.2330dup (p.His777fs)
NM_012210.4(TRIM32):c.1424_1426dup (p.Ile475dup) rs1588218148
NM_012210.4(TRIM32):c.872T>G (p.Ile291Ser) rs762907412
NM_012233.3(RAB3GAP1):c.1555-1G>A rs1573584395
NM_012233.3(RAB3GAP1):c.2393_2394del (p.Leu798fs)
NM_012233.3(RAB3GAP1):c.748+1G>A rs587776651
NM_012330.4(KAT6B):c.2152C>T (p.Arg718Trp) rs1842359062
NM_012414.4(RAB3GAP2):c.1201del (p.Ala400_Val401insTer)
NM_012463.4(ATP6V0A2):c.16_19del (p.Arg6fs)
NM_012463.4(ATP6V0A2):c.2176-10TC[2] rs1593920665
NM_013382.7(POMT2):c.1726-1dup rs1229291913
NM_013382.7(POMT2):c.333+1G>T
NM_014363.6(SACS):c.11092C>T (p.Gln3698Ter) rs1883571494
NM_014363.6(SACS):c.13350G>A (p.Trp4450Ter)
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter) rs1567800920
NM_015272.5(RPGRIP1L):c.439C>T (p.Gln147Ter)
NM_015294.6(TRIM37):c.2243G>A (p.Cys748Tyr) rs2037467316
NM_015294.6(TRIM37):c.934G>A (p.Val312Ile) rs2041587108
NM_015378.4(VPS13D):c.10142-2A>G
NM_016038.4(SBDS):c.120del (p.Ser41fs) rs113993990
NM_016038.4(SBDS):c.128+3G>C
NM_016529.6(ATP8A2):c.1917T>A (p.Tyr639Ter) rs1593576872
NM_017414.4(USP18):c.652C>T (p.Gln218Ter) rs1085307118
NM_017755.6(NSUN2):c.2041_2059del (p.Arg681fs)
NM_017755.6(NSUN2):c.2062del (p.Thr688fs)
NM_017755.6(NSUN2):c.839dup (p.Asn280fs) rs1579370234
NM_017777.4(MKS1):c.959-5C>A rs765242131
NM_017825.3(ADPRS):c.1038C>G (p.Tyr346Ter) rs531916765
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter) rs587783215
NM_018136.5(ASPM):c.3067T>G (p.Leu1023Val) rs2125105601
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter) rs1057520873
NM_018136.5(ASPM):c.688del (p.Glu230fs) rs1557966012
NM_018136.5(ASPM):c.8266C>T (p.Gln2756Ter) rs763909256
NM_018136.5(ASPM):c.8596_8597del (p.Leu2866fs) rs1571596976
NM_018136.5(ASPM):c.9450G>A (p.Trp3150Ter) rs2125088498
NM_018294.6(CWF19L1):c.1158dup (p.Lys387fs) rs1589611043
NM_018389.5(SLC35C1):c.842G>A (p.Gly281Asp) rs1265362913
NM_018451.5(CENPJ):c.265_266del (p.Gln89fs) rs2138660627
NM_018669.6(WDR4):c.454-2A>C rs779449710
NM_018972.4(GDAP1):c.786del (p.Phe263fs) rs1060500978
NM_020247.5(COQ8A):c.1838_1851del (p.Met613fs)
NM_020762.4(SRGAP1):c.806G>A (p.Cys269Tyr) rs1208074975
NM_020964.3(EPG5):c.1252+1G>A
NM_020964.3(EPG5):c.2413-2A>G
NM_020964.3(EPG5):c.6724del (p.Met2242fs)
NM_020987.5(ANK3):c.12356T>C (p.Ile4119Thr) rs768220615
NM_021800.3(DNAJC12):c.410_413del (p.Lys137fs) rs1443792358
NM_021942.6(TRAPPC11):c.3379_3380insT (p.Asp1127fs)
NM_022095.4(ZNF335):c.201+85G>A
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) rs587777446
NM_024298.5(MBOAT7):c.126_145del (p.Leu43fs) rs886041058
NM_024753.5(TTC21B):c.3713G>A (p.Gly1238Glu) rs1294549037
NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter) rs1465414886
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs) rs1592833648
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter) rs561598805
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu) rs774072453
NM_032237.5(POMK):c.965C>T (p.Pro322Leu) rs747083630
NM_032856.5(WDR73):c.766dup (p.Arg256fs) rs727502864
NM_033028.5(BBS4):c.777_778del (p.Tyr259_Arg260delinsTer) rs1459736027
NM_033028.5(BBS4):c.864+1G>C rs2151047618
NM_033056.4(PCDH15):c.4726C>T (p.Gln1576Ter) rs758204385
NM_033064.5(ATCAY):c.552C>G (p.Tyr184Ter)
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_033629.6(TREX1):c.58dup (p.Glu20fs) rs78300695
NM_152384.3(BBS5):c.386+1G>T rs1559122277
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs) rs1560708847
NM_153816.6(SNX14):c.2764_2770del (p.Leu921_Asp922insTer) rs1064793681
NM_153816.6(SNX14):c.303T>A (p.Cys101Ter) rs1562374476
NM_181503.3(EXOSC8):c.17+1G>T rs1412754843
NM_181503.3(EXOSC8):c.695T>C (p.Leu232Pro) rs1593709247
NM_201378.4(PLEC):c.-2_22del (p.Met1_Glu8del)
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.4(USH2A):c.7047G>A (p.Trp2349Ter)
NM_213599.3(ANO5):c.1627dup (p.Met543fs) rs281865480
NM_213599.3(ANO5):c.1630+2T>G rs1590300702
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
NM_213599.3(ANO5):c.2411G>C (p.Cys804Ser) rs1233836740
NM_213599.3(ANO5):c.649-2A>G rs773736505
Single allele

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