ClinVar Miner

List of variants in gene GPC3 reported as pathogenic for not provided

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 Xq26.2(chrX:132554646-132787377)x0
GRCh37/hg19 Xq26.2(chrX:132815787-132973332)x0
GRCh37/hg19 Xq26.2(chrX:132879202-132956033)x0
GRCh37/hg19 Xq26.2(chrX:132887509-132888204)x0
NM_004484.4(GPC3):c.1159C>T (p.Arg387Ter) rs122453121
NM_004484.4(GPC3):c.1437del (p.Gly481fs) rs886039473
NM_004484.4(GPC3):c.175+1G>A rs886039489
NM_004484.4(GPC3):c.175+1G>T rs886039489
NM_004484.4(GPC3):c.175G>T (p.Gly59Ter) rs1057517739
NM_004484.4(GPC3):c.213_214del (p.Cys72fs) rs886039384
NM_004484.4(GPC3):c.256C>T (p.Arg86Ter) rs2076400520
NM_004484.4(GPC3):c.595C>T (p.Arg199Ter) rs104894855
NM_004484.4(GPC3):c.706G>T (p.Gly236Ter) rs2071695360
NM_004484.4(GPC3):c.760C>T (p.Arg254Ter) rs752194694

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