ClinVar Miner

List of variants in gene HSPG2 reported by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln) rs140621959 0.00188
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn) rs146309392 0.00066
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881 0.00049
NM_005529.7(HSPG2):c.83C>T (p.Ala28Val) rs754643779 0.00031
NM_005529.7(HSPG2):c.8899G>A (p.Ala2967Thr) rs143274889 0.00029
NM_005529.7(HSPG2):c.5297C>T (p.Ala1766Val) rs139794766 0.00025
NM_005529.7(HSPG2):c.11920G>A (p.Gly3974Arg) rs370471445 0.00024
NM_005529.7(HSPG2):c.2987G>A (p.Arg996His) rs373895855 0.00008
NM_005529.7(HSPG2):c.8711C>T (p.Ala2904Val) rs372570791 0.00004
NM_005529.7(HSPG2):c.10085G>A (p.Arg3362His) rs748180505 0.00002

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