ClinVar Miner

List of variants in gene NADSYN1 reported as benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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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.612A>C (p.Gln204His) rs7950441

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