ClinVar Miner

List of variants studied for X-linked disease by Mendelics

Included ClinVar conditions (311):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 337
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HGVS dbSNP
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu) rs201062903
NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe) rs139596860
NM_000033.4(ABCD1):c.1144A>C (p.Thr382Pro)
NM_000033.4(ABCD1):c.1201C>T (p.Arg401Trp) rs727503786
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.1501A>T (p.Met501Leu)
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser) rs1569541088
NM_000033.4(ABCD1):c.1738_1746del (p.Leu580_Val582del)
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp) rs78993751
NM_000033.4(ABCD1):c.1840G>A (p.Gly614Ser)
NM_000033.4(ABCD1):c.1853del (p.Met618fs)
NM_000033.4(ABCD1):c.1998C>G (p.Tyr666Ter)
NM_000033.4(ABCD1):c.199A>G (p.Met67Val)
NM_000033.4(ABCD1):c.341T>C (p.Leu114Pro)
NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys) rs1557052390
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955
NM_000033.4(ABCD1):c.878T>C (p.Ile293Thr)
NM_000052.7(ATP7A):c.-21-2239C>T
NM_000052.7(ATP7A):c.1856T>C (p.Ile619Thr) rs1569549841
NM_000052.7(ATP7A):c.1947-1G>A rs794729231
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) rs2227291
NM_000052.7(ATP7A):c.2836_2837del (p.Val946fs)
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687
NM_000052.7(ATP7A):c.3871G>A (p.Glu1291Lys)
NM_000052.7(ATP7A):c.3913G>A (p.Asp1305Asn)
NM_000052.7(ATP7A):c.4048= (p.Lys1350=) rs4826245
NM_000054.6(AVPR2):c.191_199GGCGGGGCC[1] (p.64_66RRG[1])
NM_000054.6(AVPR2):c.382_384del (p.Tyr128del) rs1557100594
NM_000054.6(AVPR2):c.744_755del (p.Arg249_Arg252del)
NM_000054.6(AVPR2):c.784G>A (p.Val262Met)
NM_000054.6(AVPR2):c.816G>A (p.Met272Ile)
NM_000092.4(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813
NM_000108.5(DLD):c.439-7T>C rs10263341
NM_000117.3(EMD):c.12C>A (p.Tyr4Ter)
NM_000132.3(F8):c.1468A>G (p.Arg490Gly)
NM_000132.3(F8):c.1508G>A (p.Arg503His) rs35383156
NM_000132.3(F8):c.266-19G>A
NM_000132.3(F8):c.2994T>G (p.His998Gln) rs149853218
NM_000132.3(F8):c.4379del (p.Asn1460fs) rs387906455
NM_000132.3(F8):c.43C>T (p.Arg15Ter) rs387906432
NM_000132.3(F8):c.4936del (p.Ala1646fs)
NM_000132.3(F8):c.5012G>A (p.Arg1671His)
NM_000132.3(F8):c.5024A>G (p.Gln1675Arg)
NM_000132.3(F8):c.605G>A (p.Ser202Asn)
NM_000132.3(F8):c.6301C>G (p.His2101Asp)
NM_000132.3(F8):c.6374G>C (p.Ser2125Thr)
NM_000132.3(F8):c.6429+8606G>C
NM_000132.3(F8):c.6623A>G (p.Gln2208Arg) rs782198570
NM_000166.6(GJB1):c.281A>G (p.His94Arg)
NM_000166.6(GJB1):c.392_393TG[1] (p.Trp132fs) rs1555937168
NM_000166.6(GJB1):c.466_467CT[1] (p.Tyr157fs)
NM_000166.6(GJB1):c.538T>C (p.Phe180Leu)
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825
NM_000194.3(HPRT1):c.134+6_134+9del rs794727238
NM_000194.3(HPRT1):c.221T>G (p.Phe74Cys)
NM_000202.8(IDS):c.418+34G>T
NM_000202.8(IDS):c.442G>T (p.Asp148Tyr)
NM_000202.8(IDS):c.925A>G (p.Thr309Ala) rs145807417
NM_000252.3(MTM1):c.1260+3G>A rs222410
NM_000252.3(MTM1):c.136+1G>T
NM_000252.3(MTM1):c.482_485TGGA[2] (p.Trp164fs)
NM_000266.4(NDP):c.1A>G (p.Met1Val) rs28933685
NM_000273.3(GPR143):c.371A>G (p.Gln124Arg) rs62635032
NM_000276.4(OCRL):c.40-80dup
NM_000276.4(OCRL):c.439+3A>G rs61752971
NM_000284.4(PDHA1):c.16G>A (p.Ala6Thr)
NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln) rs794729213
NM_000284.4(PDHA1):c.822_826dup (p.Gly276fs)
NM_000291.4(PGK1):c.1072G>A (p.Glu358Lys)
NM_000307.5(POU3F4):c.710= (p.Ala237=) rs5921979
NM_000377.2(WAS):c.1058del (p.Pro353fs) rs1557007165
NM_000377.2(WAS):c.391G>A (p.Glu131Lys) rs146220228
NM_000377.2(WAS):c.881T>C (p.Ile294Thr) rs387906717
NM_000377.3(WAS):c.1081C>A (p.Pro361Thr)
NM_000377.3(WAS):c.734+5G>A
NM_000390.4(CHM):c.1053_1056dup (p.Asp353fs)
NM_000390.4(CHM):c.1573C>T (p.Gln525Ter)
NM_000390.4(CHM):c.1645G>C (p.Ala549Pro)
NM_000390.4(CHM):c.29_30del (p.Asp10fs)
NM_000390.4(CHM):c.820-2A>G rs1556307713
NM_000398.7(CYB5R3):c.226+2T>C
NM_000398.7(CYB5R3):c.464-2A>C rs794728013
NM_000444.6(PHEX):c.101del (p.Gly34fs)
NM_000444.6(PHEX):c.1037A>G (p.Tyr346Cys) rs1556026033
NM_000444.6(PHEX):c.1044del (p.Asp349fs) rs1556026042
NM_000444.6(PHEX):c.1102T>C (p.Trp368Arg)
NM_000444.6(PHEX):c.1157G>A (p.Trp386Ter)
NM_000444.6(PHEX):c.1208G>A (p.Trp403Ter)
NM_000444.6(PHEX):c.1215del (p.Lys405fs)
NM_000444.6(PHEX):c.1217G>A (p.Cys406Tyr)
NM_000444.6(PHEX):c.1324del (p.Val442fs)
NM_000444.6(PHEX):c.1402A>T (p.Lys468Ter)
NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu) rs375593493
NM_000444.6(PHEX):c.1425del (p.Val476fs)
NM_000444.6(PHEX):c.1496_1497insTCA (p.Glu499delinsAspGln)
NM_000444.6(PHEX):c.1586+3_1586+6del rs886042234
NM_000444.6(PHEX):c.1586+5G>A
NM_000444.6(PHEX):c.1601C>T (p.Pro534Leu) rs886041363
NM_000444.6(PHEX):c.1646G>C (p.Arg549Pro)
NM_000444.6(PHEX):c.1714G>T (p.Gly572Cys)
NM_000444.6(PHEX):c.1718C>T (p.Ala573Val)
NM_000444.6(PHEX):c.1741G>T (p.Glu581Ter)
NM_000444.6(PHEX):c.1750C>T (p.His584Tyr)
NM_000444.6(PHEX):c.1768+1G>A rs886041296
NM_000444.6(PHEX):c.1769-1G>T
NM_000444.6(PHEX):c.1809dup (p.Ser604fs)
NM_000444.6(PHEX):c.1825G>T (p.Glu609Ter)
NM_000444.6(PHEX):c.1854_1857dup (p.Asn620delinsAspTer) rs886041367
NM_000444.6(PHEX):c.185dup (p.Ala63fs)
NM_000444.6(PHEX):c.1862A>C (p.Gln621Pro)
NM_000444.6(PHEX):c.1899+1G>A rs1556138769
NM_000444.6(PHEX):c.1899+2T>G
NM_000444.6(PHEX):c.1951_1962dup (p.Glu652_Arg655dup)
NM_000444.6(PHEX):c.2005_2016del (p.Glu669_Leu672del)
NM_000444.6(PHEX):c.2078G>C (p.Cys693Ser)
NM_000444.6(PHEX):c.20_21del (p.Ser7fs)
NM_000444.6(PHEX):c.2125del (p.Ala709fs)
NM_000444.6(PHEX):c.2133T>G (p.Ser711Arg)
NM_000444.6(PHEX):c.2147+2T>G
NM_000444.6(PHEX):c.2198G>T (p.Cys733Phe)
NM_000444.6(PHEX):c.2236T>C (p.Cys746Arg)
NM_000444.6(PHEX):c.2249A>G (p.Ter750Trp)
NM_000444.6(PHEX):c.254G>C (p.Cys85Ser)
NM_000444.6(PHEX):c.349+1G>A
NM_000444.6(PHEX):c.422C>T (p.Ser141Phe)
NM_000444.6(PHEX):c.436+5G>T
NM_000444.6(PHEX):c.540G>A (p.Trp180Ter)
NM_000444.6(PHEX):c.559del (p.Leu187fs)
NM_000444.6(PHEX):c.582del (p.Arg195fs)
NM_000444.6(PHEX):c.591A>G (p.Gln197=) rs1556020818
NM_000444.6(PHEX):c.593del (p.Tyr198fs)
NM_000444.6(PHEX):c.621T>G (p.Tyr207Ter) rs771208171
NM_000444.6(PHEX):c.7_8dup (p.Glu4fs)
NM_000444.6(PHEX):c.849_849+2del
NM_000444.6(PHEX):c.865G>T (p.Glu289Ter)
NM_000444.6(PHEX):c.934-1G>T
NM_000444.6(PHEX):c.961G>T (p.Val321Phe) rs1556025976
NM_000444.6(PHEX):c.985del (p.His329fs)
NM_000475.5(NR0B1):c.376G>A (p.Val126Met) rs193205940
NM_000489.5(ATRX):c.5124G>T (p.Leu1708Phe)
NM_000489.5(ATRX):c.5405A>C (p.Lys1802Thr)
NM_000489.5(ATRX):c.6104A>G (p.Asp2035Gly)
NM_000489.5(ATRX):c.729C>G (p.Cys243Trp) rs1057524153
NM_000531.6(OTC):c.275G>A (p.Arg92Gln) rs66550389
NM_000531.6(OTC):c.298+5G>C rs72554348
NM_000531.6(OTC):c.387-1G>A
NM_000531.6(OTC):c.407A>T (p.Asp136Val) rs72556257
NM_000531.6(OTC):c.422G>C (p.Arg141Pro) rs68026851
NM_000531.6(OTC):c.491C>T (p.Ser164Leu)
NM_000531.6(OTC):c.493G>C (p.Asp165His)
NM_000531.6(OTC):c.506C>T (p.Pro169Leu) rs72556278
NM_000531.6(OTC):c.717G>C (p.Glu239Asp) rs66851495
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328
NM_000531.6(OTC):c.974C>T (p.Pro325Leu)
NM_000533.5(PLP1):c.295C>T (p.Gln99Ter)
NM_000533.5(PLP1):c.551G>A (p.Cys184Tyr)
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_001008537.3(NEXMIF):c.3689del (p.Ala1230fs)
NM_001042537.1(SLC9A6):c.1236+80dup
NM_001042537.1(SLC9A6):c.1616+4A>G rs180727016
NM_001042537.1(SLC9A6):c.847_849CTT[1] (p.Leu284del)
NM_001077269.1(WIPF1):c.593C>T (p.Pro198Leu) rs4972450
NM_001079872.2(CUL4B):c.1386del (p.Phe462fs)
NM_001082486.1(ACD):c.137delG (p.Arg46Leufs) rs753666055
NM_001110792.2(MECP2):c.*98dup rs267608341
NM_001110792.2(MECP2):c.1108G>A (p.Ala370Thr) rs147017239
NM_001110792.2(MECP2):c.1153_1207del (p.Ser385fs)
NM_001110792.2(MECP2):c.1169C>G (p.Ala390Gly) rs201314910
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs) rs63749748
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975
NM_001110792.2(MECP2):c.310_311dup (p.Pro105fs)
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.44_57dup (p.Arg20fs)
NM_001110792.2(MECP2):c.487G>T (p.Asp163Tyr) rs1557137042
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900
NM_001110792.2(MECP2):c.502G>T (p.Asp168Tyr)
NM_001110792.2(MECP2):c.520A>G (p.Arg174Gly) rs727505391
NM_001110792.2(MECP2):c.541G>T (p.Glu181Ter)
NM_001110792.2(MECP2):c.553C>A (p.Pro185Thr)
NM_001110792.2(MECP2):c.62+1G>A rs786205048
NM_001110792.2(MECP2):c.62+5469A>T
NM_001110792.2(MECP2):c.62+5503del
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) rs61749713
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714
NM_001110792.2(MECP2):c.785dup (p.Gly264fs)
NM_001111125.3(IQSEC2):c.1967del (p.Pro656fs)
NM_001111125.3(IQSEC2):c.3028T>A (p.Phe1010Ile)
NM_001111125.3(IQSEC2):c.938_939del (p.Ile313fs)
NM_001167.3(XIAP):c.1141C>T (p.Arg381Ter) rs1556408009
NM_001167.3(XIAP):c.1458del (p.Val487fs)
NM_001167.3(XIAP):c.609dup (p.Gly204fs)
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro) rs5956583
NM_001184880.2(PCDH19):c.1172del (p.Asn391fs)
NM_001184880.2(PCDH19):c.134_135del (p.Asp45fs)
NM_001184880.2(PCDH19):c.1442A>G (p.Asp481Gly)
NM_001184880.2(PCDH19):c.1623del (p.Ser542fs)
NM_001184880.2(PCDH19):c.1925T>G (p.Val642Gly)
NM_001184880.2(PCDH19):c.1938C>A (p.Asp646Glu)
NM_001184880.2(PCDH19):c.2341dup (p.Ile781fs)
NM_001184880.2(PCDH19):c.260_292del (p.Ile87_Pro97del)
NM_001184880.2(PCDH19):c.2624del (p.Asn875fs)
NM_001184880.2(PCDH19):c.2697dup (p.Glu900fs)
NM_001184880.2(PCDH19):c.2873G>A (p.Arg958Gln) rs748581653
NM_001184880.2(PCDH19):c.3404_3405del (p.Lys1135fs)
NM_001184880.2(PCDH19):c.498C>A (p.Tyr166Ter) rs796052837
NM_001184880.2(PCDH19):c.937G>T (p.Glu313Ter)
NM_001184880.2(PCDH19):c.959A>T (p.Asp320Val)
NM_001193416.3(DDX3X):c.136C>T (p.Arg46Ter) rs1569234653
NM_001256789.3(CACNA1F):c.1523G>A (p.Arg508Gln) rs34162630
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile) rs141010716
NM_001256789.3(CACNA1F):c.2204A>C (p.Asn735Thr) rs141159097
NM_001278116.2(L1CAM):c.-109+1811dup
NM_001278116.2(L1CAM):c.-109+234del
NM_001278116.2(L1CAM):c.-109+238_-109+239insGG
NM_001278116.2(L1CAM):c.-109+95_-109+96insGCCG
NM_001278116.2(L1CAM):c.2440dup (p.Ala814fs)
NM_001278116.2(L1CAM):c.3G>A (p.Met1Ile)
NM_001323289.2(CDKL5):c.1431_1435dup (p.Ser479fs)
NM_001323289.2(CDKL5):c.1691A>G (p.His564Arg)
NM_001323289.2(CDKL5):c.1742dup (p.His581fs)
NM_001323289.2(CDKL5):c.1767C>T (p.His589=) rs267608645
NM_001323289.2(CDKL5):c.1816C>T (p.Gln606Ter)
NM_001323289.2(CDKL5):c.213C>G (p.Asn71Lys)
NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn) rs140313320
NM_001323289.2(CDKL5):c.2480C>G (p.Ser827Ter)
NM_001323289.2(CDKL5):c.2716C>T (p.Gln906Ter) rs863225289
NM_001323289.2(CDKL5):c.353A>G (p.Gln118Arg) rs863225290
NM_001323289.2(CDKL5):c.364G>A (p.Ala122Thr)
NM_001323289.2(CDKL5):c.386del (p.Asn129fs)
NM_001323289.2(CDKL5):c.425T>G (p.Leu142Ter)
NM_001323289.2(CDKL5):c.602T>C (p.Leu201Pro) rs587783087
NM_001323289.2(CDKL5):c.65G>A (p.Gly22Glu)
NM_001323289.2(CDKL5):c.825+1dup
NM_001353921.2(ARHGEF9):c.178G>T (p.Glu60Ter)
NM_001356.5(DDX3X):c.173C>G (p.Ser58Ter)
NM_001356.5(DDX3X):c.269dup (p.Ser90fs)
NM_001356.5(DDX3X):c.95_98CAGC[3] (p.Lys35fs)
NM_001399.5(EDA):c.1142G>A (p.Gly381Glu)
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309
NM_001399.5(EDA):c.458G>A (p.Arg153His)
NM_001399.5(EDA):c.491A>C (p.Glu164Ala) rs397516663
NM_001399.5(EDA):c.961G>A (p.Glu321Lys)
NM_002024.6(FMR1):c.*746T>C
NM_002024.6(FMR1):c.357A>C (p.Lys119Asn)
NM_002025.4(AFF2):c.1834C>G (p.His612Asp)
NM_002025.4(AFF2):c.2780G>A (p.Arg927His) rs140927355
NM_002025.4(AFF2):c.3088A>C (p.Ile1030Leu) rs149653283
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006
NM_002547.3(OPHN1):c.1138+1G>A
NM_002764.4(PRPS1):c.359G>T (p.Gly120Val)
NM_003159.2(CDKL5):c.2896G>A (p.Val966Ile) rs747799506
NM_003336.4(UBE2A):c.31_42del (p.Asp12_Arg15del)
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997
NM_003491.4(NAA10):c.116C>T (p.Pro39Leu)
NM_003491.4(NAA10):c.377T>G (p.Leu126Arg)
NM_003611.3(OFD1):c.1100G>A (p.Arg367Gln) rs312262864
NM_003688.3(CASK):c.1186C>T (p.Pro396Ser) rs137852820
NM_003688.3(CASK):c.1385_1394del (p.Pro462fs)
NM_003688.3(CASK):c.1465C>T (p.Arg489Trp) rs1114167352
NM_003688.3(CASK):c.1609C>T (p.Arg537Ter) rs1555981717
NM_003688.3(CASK):c.1976G>A (p.Gly659Asp) rs727505397
NM_003688.3(CASK):c.2414G>A (p.Ser805Asn)
NM_003688.3(CASK):c.774_780del (p.Met258fs)
NM_003688.3(CASK):c.787G>A (p.Glu263Lys)
NM_003688.3(CASK):c.82C>T (p.Arg28Ter) rs587783370
NM_004085.4(TIMM8A):c.127T>C (p.Cys43Arg)
NM_004187.5(KDM5C):c.807del (p.Thr270fs) rs1569278313
NM_004208.4(AIFM1):c.1241T>C (p.Ile414Thr)
NM_004208.4(AIFM1):c.273T>C (p.Asp91=) rs1139851
NM_004463.3(FGD1):c.1452G>A (p.Trp484Ter)
NM_004463.3(FGD1):c.1843-1G>A
NM_004463.3(FGD1):c.386G>A (p.Gly129Asp)
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln) rs145644275
NM_004463.3(FGD1):c.437A>G (p.Gln146Arg)
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316
NM_004550.4(NDUFS2):c.968G>A (p.Arg323Gln) rs35086265
NM_004553.5(NDUFS6):c.309+208T>C
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His) rs144984628
NM_004586.3(RPS6KA3):c.243+1G>A
NM_004586.3(RPS6KA3):c.748G>A (p.Asp250Asn)
NM_004615.3(TSPAN7):c.515C>A (p.Pro172His) rs104894951
NM_004840.3(ARHGEF6):c.169T>C (p.Cys57Arg) rs147131853
NM_004840.3(ARHGEF6):c.1943A>G (p.Lys648Arg) rs375084147
NM_005002.5(NDUFA9):c.224G>T (p.Arg75Leu) rs35263902
NM_005002.5(NDUFA9):c.897-115A>G
NM_005120.3(MED12):c.224G>C (p.Ser75Thr)
NM_005120.3(MED12):c.4416-77CTCTT[14]
NM_005249.5(FOXG1):c.430G>A (p.Glu144Lys) rs797045583
NM_005249.5(FOXG1):c.688C>T (p.Arg230Cys)
NM_005249.5(FOXG1):c.85del (p.Gln29fs)
NM_005629.4(SLC6A8):c.1068C>T (p.Gly356=)
NM_005629.4(SLC6A8):c.1396G>A (p.Gly466Arg)
NM_005710.2(PQBP1):c.334_354del (p.Gly113_Arg119del) rs606231198
NM_006517.5(SLC16A2):c.1262G>T (p.Gly421Val)
NM_006517.5(SLC16A2):c.1373del (p.Pro458fs)
NM_006517.5(SLC16A2):c.407dup (p.Asn136fs)
NM_006950.3(SYN1):c.152C>G (p.Ala51Gly) rs187134574
NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln) rs138817389
NM_007325.5(GRIA3):c.1957G>A (p.Ala653Thr) rs1057521721
NM_007325.5(GRIA3):c.268+16762dup
NM_012310.5(KIF4A):c.1525G>A (p.Asp509Asn)
NM_014271.4(IL1RAPL1):c.1910C>G (p.Thr637Ser)
NM_014467.3(SRPX2):c.449C>T (p.Ser150Phe) rs373847965
NM_014467.3(SRPX2):c.602C>T (p.Ala201Val)
NM_014751.5(MTSS1):c.1036-28C>T
NM_014751.5(MTSS1):c.619-571G>A
NM_015107.3(PHF8):c.2720G>A (p.Arg907His) rs142630105
NM_015922.3(NSDHL):c.*129C>T
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter) rs1131691616
NM_018838.5(NDUFA12):c.253G>T (p.Glu85Ter)
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_024120.5(NDUFAF5):c.146G>T (p.Arg49Leu)
NM_031407.7(HUWE1):c.4546C>G (p.Gln1516Glu)
NM_033380.3(COL4A5):c.1588-10C>G
NM_033380.3(COL4A5):c.2005G>T (p.Gly669Cys)
NM_033380.3(COL4A5):c.2107A>G (p.Ile703Val) rs104886155
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala) rs104886164
NM_033380.3(COL4A5):c.2395+2T>A
NM_033380.3(COL4A5):c.2722G>A (p.Gly908Arg) rs281874703
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val) rs78972735
NM_033380.3(COL4A5):c.2999G>T (p.Gly1000Val) rs281874709
NM_033380.3(COL4A5):c.321+2T>G
NM_033380.3(COL4A5):c.412G>T (p.Gly138Cys)
NM_033380.3(COL4A5):c.4599C>T (p.Cys1533=)
NM_033380.3(COL4A5):c.4822-1G>T
NM_080632.3(UPF3B):c.1101G>C (p.Lys367Asn)
NM_152416.4(NDUFAF6):c.838G>A (p.Val280Ile) rs61743028
NM_153252.5(BRWD3):c.1690C>T (p.Leu564Phe)
NM_153252.5(BRWD3):c.2325+5G>A rs186391561
NM_153252.5(BRWD3):c.3865-119TA[9]
NM_198270.4(NHS):c.719-1G>A

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