ClinVar Miner

List of variants in gene HSPG2 reported as benign by Eurofins NTD LLC (GA)

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_005529.7(HSPG2):c.4508C>T (p.Ala1503Val) rs897471 0.70428
NM_005529.7(HSPG2):c.3897G>A (p.Val1299=) rs2229482 0.50526
NM_005529.7(HSPG2):c.11340T>C (p.Asn3780=) rs2229488 0.10195
NM_005529.7(HSPG2):c.6402G>A (p.Val2134=) rs12742444 0.03814
NM_005529.7(HSPG2):c.5702-5G>A rs2290498 0.00977
NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys) rs2229474 0.00657
NM_005529.7(HSPG2):c.3056C>T (p.Pro1019Leu) rs62642528 0.00626
NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val) rs140403186 0.00485
NM_005529.7(HSPG2):c.3269G>A (p.Arg1090Gln) rs78889849 0.00373
NM_005529.7(HSPG2):c.1082C>A (p.Thr361Asn) rs75467696 0.00357
NM_005529.7(HSPG2):c.11294G>A (p.Ser3765Asn) rs114223739 0.00347
NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met) rs143543800 0.00313
NM_005529.7(HSPG2):c.3336C>T (p.Pro1112=) rs2228348 0.00304
NM_005529.7(HSPG2):c.4877G>A (p.Arg1626His) rs41311989 0.00293
NM_005529.7(HSPG2):c.9514-3C>T rs114851424 0.00291
NM_005529.7(HSPG2):c.3528+10G>T rs367678569 0.00274
NM_005529.7(HSPG2):c.2462C>T (p.Ala821Val) rs141901178 0.00244
NM_005529.7(HSPG2):c.3945T>C (p.Ser1315=) rs72866991 0.00243
NM_005529.7(HSPG2):c.9789C>A (p.Leu3263=) rs137921473 0.00220
NM_005529.7(HSPG2):c.2326G>A (p.Val776Met) rs145476116 0.00185
NM_005529.7(HSPG2):c.4437G>A (p.Glu1479=) rs141463803 0.00180
NM_005529.7(HSPG2):c.959-5C>T rs149574138 0.00175
NM_005529.7(HSPG2):c.11717G>A (p.Arg3906Gln) rs78944354

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