ClinVar Miner

List of variants in gene NADSYN1 reported as pathogenic for congenital vertebral-cardiac-renal anomalies syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_018161.5(NADSYN1):c.1717G>A (p.Ala573Thr) rs144139747 0.00081
NM_018161.5(NADSYN1):c.1459C>T (p.Arg487Ter) rs368115694 0.00003
NM_018161.5(NADSYN1):c.145T>C (p.Cys49Arg) rs769220327 0.00001
NM_018161.5(NADSYN1):c.1819del (p.Val607fs) rs1327307171
NM_018161.5(NADSYN1):c.1839C>G (p.Tyr613Ter) rs1008561025
NM_018161.5(NADSYN1):c.524G>A (p.Cys175Tyr) rs764123669
NM_018161.5(NADSYN1):c.735T>A (p.Cys245Ter) rs1949650831

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