ClinVar Miner

List of variants in gene NDUFS3 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: 14
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HGVS dbSNP
NM_004551.2(NDUFS3):c.-30C>T rs375483884
NM_004551.2(NDUFS3):c.-41T>C rs750965789
NM_004551.3(NDUFS3):c.190T>C (p.Tyr64His) rs886048391
NM_004551.3(NDUFS3):c.204C>G (p.Ile68Met) rs886044765
NM_004551.3(NDUFS3):c.381+5G>T rs886048392
NM_004551.3(NDUFS3):c.381+6T>C rs377579231
NM_004551.3(NDUFS3):c.475G>C (p.Val159Leu) rs148331180
NM_004551.3(NDUFS3):c.596G>A (p.Arg199Gln) rs771783839
NM_004551.3(NDUFS3):c.628-7C>T rs11039306
NM_004551.3(NDUFS3):c.657G>A (p.Val219=) rs377323760
NM_004551.3(NDUFS3):c.753T>G (p.Ser251Arg) rs752314902
NM_004551.3(NDUFS3):c.783T>C (p.Pro261=) rs117981655
NM_004551.3(NDUFS3):c.79C>T (p.Pro27Ser) rs368907187
NM_004551.3(NDUFS3):c.91T>C (p.Leu31=) rs770306617

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