ClinVar Miner

List of variants in gene HSPG2 reported as pathogenic by Invitae

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_005529.7(HSPG2):c.1120C>T (p.Arg374Ter) rs759220039 0.00001
NM_005529.7(HSPG2):c.5449C>T (p.Arg1817Ter) rs759141433 0.00001
NM_005529.7(HSPG2):c.8017C>T (p.Arg2673Ter) rs745338204 0.00001
NM_005529.7(HSPG2):c.9109C>T (p.Gln3037Ter) rs898553156 0.00001
NM_005529.7(HSPG2):c.10042G>T (p.Glu3348Ter)
NM_005529.7(HSPG2):c.10982G>A (p.Arg3661Gln)
NM_005529.7(HSPG2):c.11066del (p.Lys3689fs)
NM_005529.7(HSPG2):c.11322_11328dup (p.Ala3777Ter) rs2152692989
NM_005529.7(HSPG2):c.11750C>A (p.Ser3917Ter)
NM_005529.7(HSPG2):c.1222dup (p.Val408fs)
NM_005529.7(HSPG2):c.12337dup (p.Cys4113fs)
NM_005529.7(HSPG2):c.12478C>T (p.Gln4160Ter)
NM_005529.7(HSPG2):c.12579del (p.Ser4193fs)
NM_005529.7(HSPG2):c.1653_1654insT (p.Gly552fs)
NM_005529.7(HSPG2):c.1861G>T (p.Glu621Ter) rs1310509066
NM_005529.7(HSPG2):c.3099_3112del (p.Gln1033fs)
NM_005529.7(HSPG2):c.3119_3120dup (p.His1041fs) rs1227714952
NM_005529.7(HSPG2):c.3456C>G (p.Tyr1152Ter)
NM_005529.7(HSPG2):c.3892C>T (p.Gln1298Ter)
NM_005529.7(HSPG2):c.4201G>T (p.Glu1401Ter)
NM_005529.7(HSPG2):c.4245dup (p.Arg1416fs)
NM_005529.7(HSPG2):c.4736_4739dup (p.Gln1581fs) rs2152735062
NM_005529.7(HSPG2):c.4765G>T (p.Glu1589Ter) rs750108837
NM_005529.7(HSPG2):c.4888_4889del (p.Ser1630fs)
NM_005529.7(HSPG2):c.740_741del (p.Leu247fs)
NM_005529.7(HSPG2):c.8072C>A (p.Ser2691Ter)
NM_005529.7(HSPG2):c.9326del (p.His3109fs)
NM_005529.7(HSPG2):c.9670G>T (p.Glu3224Ter) rs2152703859

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