ClinVar Miner

List of variants studied for arthrogryposis multiplex congenita 2, neurogenic type by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_018668.5(VPS33B):c.597C>T (p.Cys199=) rs60198611 0.01658
NM_001193315.2(VIPAS39):c.1455C>A (p.Ser485Arg) rs145453157 0.00129
NM_018668.5(VPS33B):c.1685G>A (p.Ser562Asn) rs566630364 0.00001

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