ClinVar Miner

List of variants in gene VPS13A reported as uncertain significance for not specified

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn) rs117320408 0.00061
NM_033305.3(VPS13A):c.8225A>G (p.His2742Arg) rs145686832 0.00026
NM_033305.3(VPS13A):c.6379-19T>G rs766881111 0.00021
NM_033305.3(VPS13A):c.6541G>A (p.Val2181Ile) rs146158125 0.00017
NM_033305.3(VPS13A):c.1660C>T (p.Leu554Phe) rs147115148 0.00011
NM_033305.3(VPS13A):c.398C>T (p.Pro133Leu) rs202090510 0.00009
NM_033305.3(VPS13A):c.4826C>T (p.Pro1609Leu) rs755454094 0.00006
NM_033305.3(VPS13A):c.9119G>A (p.Arg3040Gln) rs148458576 0.00006
GRCh37/hg19 9q21.2(chr9:79913793-80029790)
NM_033305.3(VPS13A):c.1498G>A (p.Val500Ile) rs776549674
NM_033305.3(VPS13A):c.9311A>G (p.Gln3104Arg) rs1554681451

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