ClinVar Miner

List of variants in gene HSPG2 reported by Gharavi Laboratory, Columbia University

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005529.7(HSPG2):c.10787G>A (p.Cys3596Tyr) rs747227079 0.00006
NM_005529.7(HSPG2):c.11716C>T (p.Arg3906Ter) rs769720495 0.00001
NM_005529.7(HSPG2):c.3072_3073del (p.His1025fs) rs1557764902
NM_005529.7(HSPG2):c.428G>A (p.Trp143Ter) rs1557793652
NM_005529.7(HSPG2):c.4377C>A (p.Tyr1459Ter) rs779605727
NM_005529.7(HSPG2):c.5281CTG[1] (p.Leu1762del) rs1557734064
NM_005529.7(HSPG2):c.7916_7938del (p.Pro2639fs) rs1557707870

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