ClinVar Miner

List of variants in gene NDUFV1 reported as likely pathogenic for X-linked syndromic intellectual disability

Included ClinVar conditions (212):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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NM_007103.4(NDUFV1):c.1156C>T (p.Arg386Cys) rs150966634
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659
NM_007103.4(NDUFV1):c.1312C>A (p.Leu438Met) rs1127511
NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro) rs201727685
NM_007103.4(NDUFV1):c.383G>A (p.Arg128Gln) rs778295360

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