ClinVar Miner

List of variants reported as likely pathogenic for X-linked disease by Baylor Genetics

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met) rs1569541120 0.00002
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln) rs781862879 0.00001
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) rs797045044 0.00001
NM_012216.4(MID2):c.1558G>A (p.Gly520Ser) rs750972972 0.00001
NM_000033.4(ABCD1):c.1172T>C (p.Leu391Pro) rs1557054173
NM_000033.4(ABCD1):c.1172_1175del (p.Leu391fs) rs2091749146
NM_000033.4(ABCD1):c.1576_1577del (p.Thr526fs)
NM_000033.4(ABCD1):c.1713C>G (p.Tyr571Ter)
NM_000033.4(ABCD1):c.2080G>T (p.Glu694Ter)
NM_000033.4(ABCD1):c.234_242del (p.Arg80_Leu82del) rs1603231784
NM_000033.4(ABCD1):c.317_320del (p.Phe106fs) rs2148388986
NM_000033.4(ABCD1):c.487C>G (p.Arg163Gly) rs1569540695
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp) rs1131691916
NM_000033.4(ABCD1):c.729del (p.Ser244fs)
NM_000033.4(ABCD1):c.839G>A (p.Arg280His) rs781904944
NM_000054.7(AVPR2):c.335G>T (p.Cys112Phe) rs1057518723
NM_000117.3(EMD):c.161C>T (p.Ser54Phe)
NM_000252.3(MTM1):c.1133G>T (p.Gly378Val) rs2040150416
NM_000252.3(MTM1):c.1468-2A>G
NM_000252.3(MTM1):c.1778C>A (p.Ser593Ter)
NM_000330.4(RS1):c.184+1G>A
NM_000330.4(RS1):c.184+2T>C
NM_000377.3(WAS):c.374G>A (p.Gly125Glu) rs1557006534
NM_000444.6(PHEX):c.1966-1G>T rs1064795147
NM_000489.6(ATRX):c.5449-7A>G rs2067371776
NM_000489.6(ATRX):c.569C>T (p.Pro190Leu) rs1057518708
NM_000489.6(ATRX):c.758T>C (p.Leu253Ser)
NM_001001344.3(ATP2B3):c.3594G>T (p.Lys1198Asn) rs782596945
NM_001008537.3(NEXMIF):c.3437C>A (p.Ser1146Tyr) rs2080101583
NM_001032382.2(PQBP1):c.32T>C (p.Leu11Ser) rs2063344708
NM_001034853.2(RPGR):c.1302dup (p.Leu435fs)
NM_001034853.2(RPGR):c.311-1G>A
NM_001034853.2(RPGR):c.3198_3214dup (p.Thr1072fs)
NM_001039591.3(USP9X):c.1315-4A>G rs1057522024
NM_001110792.2(MECP2):c.1174_1178del (p.Val392fs)
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=) rs1602260263
NM_001127898.4(CLCN5):c.941C>A (p.Ser314Ter) rs151340626
NM_001159699.2(FHL1):c.496T>C (p.Cys166Arg) rs1603271659
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu) rs369638371
NM_001278116.2(L1CAM):c.604G>A (p.Asp202Asn) rs1603276146
NM_001353921.2(ARHGEF9):c.402+1G>A rs2052538764
NM_001356.5(DDX3X):c.1180_1185dup (p.Arg394_Asp395dup) rs1602134468
NM_001356.5(DDX3X):c.1537G>C (p.Val513Leu) rs2063927856
NM_001356.5(DDX3X):c.1595C>T (p.Thr532Met) rs1064795387
NM_001356.5(DDX3X):c.1675CTT[1] (p.Leu560del) rs1555954380
NM_001356.5(DDX3X):c.544T>G (p.Phe182Val) rs2063875155
NM_001363.5(DKC1):c.964C>T (p.Arg322Ter)
NM_001367721.1(CASK):c.1690_1691del (p.Thr564fs)
NM_002547.3(OPHN1):c.598-1G>C
NM_003491.4(NAA10):c.215T>C (p.Ile72Thr) rs1057519448
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu) rs1057518697
NM_004463.3(FGD1):c.2017A>G (p.Thr673Ala) rs1922347865
NM_004595.5(SMS):c.700C>T (p.Arg234Ter)
NM_004606.5(TAF1):c.2120G>A (p.Arg707Gln) rs1602490113
NM_005120.3(MED12):c.6211del (p.Gln2071fs)
NM_031407.7(HUWE1):c.3239G>A (p.Arg1080His) rs1057518704
NM_153252.5(BRWD3):c.3899dup (p.Cys1300fs)
NM_153252.5(BRWD3):c.94dup (p.Leu32fs)
NM_181672.3(OGT):c.1529G>A (p.Ser510Asn)
NM_181672.3(OGT):c.2795C>T (p.Thr932Ile) rs1602155923

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