ClinVar Miner

List of variants in gene HSPG2 reported by OMIM

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Total variants: 9
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HGVS dbSNP gnomAD frequency
HSPG2, 10328C-T
HSPG2, 89-BP DUP, EX34
HSPG2, EX60/61 FUSION
NM_005529.7(HSPG2):c.4595G>A (p.Cys1532Tyr) rs137853248
NM_005529.7(HSPG2):c.6724+5G>A rs2152721133
NM_005529.7(HSPG2):c.7294+4A>G rs1572220282
NM_005529.7(HSPG2):c.8464+4A>G rs1572204991
NM_005529.7(HSPG2):c.8464G>A (p.Ala2822Thr) rs748523693
NM_005529.7(HSPG2):c.8759-3_8764del

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