ClinVar Miner

List of variants studied for X-linked disease by Counsyl

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000108.5(DLD):c.105C>G (p.Tyr35Ter) rs747810875
NM_000108.5(DLD):c.105del (p.Thr34_Tyr35insTer) rs1554396895
NM_000108.5(DLD):c.112C>T (p.Gln38Ter) rs1057516698
NM_000108.5(DLD):c.118+1G>T rs1554396908
NM_000108.5(DLD):c.1236+1G>T rs1554400483
NM_000108.5(DLD):c.1421del (p.Gly474fs) rs1554400699
NM_000108.5(DLD):c.1429_1432del (p.Cys477fs) rs1554400704
NM_000108.5(DLD):c.1440A>G (p.Ile480Met) rs772512477
NM_000108.5(DLD):c.1444_1445AG[1] (p.Arg482fs) rs1554400713
NM_000108.5(DLD):c.1463del (p.Pro488fs) rs1554400720
NM_000108.5(DLD):c.1516_1519TCAA[1] (p.Ile507fs) rs777884525
NM_000108.5(DLD):c.1528T>C (p.Ter510Arg) rs1554400769
NM_000108.5(DLD):c.161A>G (p.Tyr54Cys) rs763303046
NM_000108.5(DLD):c.198+1G>A rs1554398193
NM_000108.5(DLD):c.199-1G>A rs1554398264
NM_000108.5(DLD):c.223dup (p.Thr75fs) rs1057517214
NM_000108.5(DLD):c.268-2A>G rs1554398461
NM_000108.5(DLD):c.338-2_338-1delinsT rs1554398624
NM_000108.5(DLD):c.345del (p.Val116fs) rs1554398625
NM_000108.5(DLD):c.39+1G>A rs111257462
NM_000108.5(DLD):c.439-6G>C rs369208046
NM_000108.5(DLD):c.633dup (p.Val212fs) rs1040811473
NM_000108.5(DLD):c.803_804del (p.Gln268fs) rs764611160
NM_000108.5(DLD):c.82del (p.Ser28fs) rs764704217
NM_000108.5(DLD):c.865dup (p.Ile289fs) rs1554400179
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000390.4(CHM):c.116+1G>A rs786204761
NM_000390.4(CHM):c.1A>G (p.Met1Val) rs1057516265
NM_000531.6(OTC):c.119G>A (p.Arg40His) rs72554308
NM_002495.4(NDUFS4):c.512_514dup (p.Val172_Ser173insGly) rs1425486695
NM_003159.2(CDKL5):c.2714-1477C>T rs61752159
NM_003159.2(CDKL5):c.2714-1553G>T rs1057516744
NM_003159.2(CDKL5):c.2714-1578C>T rs281865348
NM_003159.2(CDKL5):c.2714-3902G>A rs61753174
NM_003159.2(CDKL5):c.2714-3918C>T rs281865355
NM_003159.2(CDKL5):c.2714-3936G>A rs104894930
NM_003159.2(CDKL5):c.2714-3953G>A rs281865361
NM_003159.2(CDKL5):c.2714-4001A>G rs1057517433
NM_003159.2(CDKL5):c.2797+1122C>T rs61752068
NM_003159.2(CDKL5):c.2797+1161T>C rs61752060
NM_003159.2(CDKL5):c.2797+1219C>T rs62645894
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142
NM_033380.3(COL4A5):c.687+5G>A rs1556405930
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp) rs104886079

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