ClinVar Miner

List of variants reported as pathogenic for X-linked disease by Counsyl

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000108.5(DLD):c.105del (p.Thr34_Tyr35insTer) rs1554396895
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000531.6(OTC):c.119G>A (p.Arg40His) rs72554308
NM_003159.2(CDKL5):c.2714-3936G>A rs104894930
NM_003159.2(CDKL5):c.2797+1122C>T rs61752068
NM_003159.2(CDKL5):c.2797+1219C>T rs62645894

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