ClinVar Miner

List of variants reported as uncertain significance for congenital limb malformation by Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000079.4(CHRNA1):c.685C>T (p.Arg229Cys) rs745355427 0.00001
NM_005199.5(CHRNG):c.1180C>G (p.Pro394Ala) rs771886490 0.00001
NM_000079.4(CHRNA1):c.254T>C (p.Leu85Pro) rs2105350715

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