ClinVar Miner

List of variants reported as likely pathogenic for Mental retardation, syndromic, Claes-Jensen type, X-linked

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Total variants: 7
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HGVS dbSNP
NC_000023.11:g.53201854C>A
NM_001146702.1(KDM5C):c.388dupC
NM_004187.4(KDM5C):c.100del (p.Ile34fs) rs1569285361
NM_004187.4(KDM5C):c.1439C>T (p.Pro480Leu) rs1057518697
NM_004187.4(KDM5C):c.1613C>T (p.Pro538Leu) rs587780372
NM_004187.4(KDM5C):c.1795C>T (p.Arg599Cys) rs1556842184
NM_004187.4(KDM5C):c.593G>A (p.Arg198Gln) rs1569279367

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