ClinVar Miner

List of variants in gene HCCS studied for X-linked syndromic intellectual disability

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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NM_001122608.3(HCCS):c.475G>A (p.Glu159Lys) rs193929392
NM_005333.5(HCCS):c.199C>A (p.Pro67Thr) rs1413276234
NM_005333.5(HCCS):c.589C>T (p.Arg197Ter) rs121917888
NM_005333.5(HCCS):c.649C>T (p.Arg217Cys) rs121917889

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