ClinVar Miner

List of variants in gene NADSYN1 studied for multiple congenital anomalies/dysmorphic syndrome

Included ClinVar conditions (856):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_018161.5(NADSYN1):c.799-5T>C rs2276353 0.89993
NM_018161.5(NADSYN1):c.705T>C (p.Cys235=) rs2276354 0.89934
NM_018161.5(NADSYN1):c.744T>C (p.Ile248=) rs2186778 0.84884
NM_018161.5(NADSYN1):c.220G>C (p.Val74Leu) rs2276360 0.59457
NM_018161.5(NADSYN1):c.264-26A>G rs2276362 0.58357
NM_018161.5(NADSYN1):c.408-21C>T rs2282621 0.56759
NM_018161.5(NADSYN1):c.408-18C>T rs2282620 0.56366
NM_018161.5(NADSYN1):c.317+22C>T rs1629220 0.27561
NM_018161.5(NADSYN1):c.1138G>A (p.Val380Met) rs147585323 0.00500
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.-690G>A
NM_018161.5(NADSYN1):c.1088C>T (p.Ala363Val)
NM_018161.5(NADSYN1):c.1189C>T (p.Gln397Ter)
NM_018161.5(NADSYN1):c.1247G>T (p.Cys416Phe)
NM_018161.5(NADSYN1):c.1621G>A (p.Gly541Arg)
NM_018161.5(NADSYN1):c.1744C>T (p.Gln582Ter)
NM_018161.5(NADSYN1):c.1759G>A (p.Asp587Asn)
NM_018161.5(NADSYN1):c.1765-7T>A
NM_018161.5(NADSYN1):c.1787C>T (p.Ala596Val)
NM_018161.5(NADSYN1):c.1819del (p.Val607fs) rs1327307171
NM_018161.5(NADSYN1):c.1839C>G (p.Tyr613Ter) rs1008561025
NM_018161.5(NADSYN1):c.271del (p.Met91fs) rs1376159616
NM_018161.5(NADSYN1):c.379C>T (p.Arg127Cys)
NM_018161.5(NADSYN1):c.524G>A (p.Cys175Tyr) rs764123669
NM_018161.5(NADSYN1):c.612A>C (p.Gln204His) rs7950441
NM_018161.5(NADSYN1):c.735T>A (p.Cys245Ter) rs1949650831
NM_018161.5(NADSYN1):c.799-2A>G
NM_018161.5(NADSYN1):c.87T>A (p.Ser29Arg)

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