ClinVar Miner

List of variants in gene GPC3 reported as uncertain significance for Simpson-Golabi-Behmel syndrome type 1

Included ClinVar conditions (4):
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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_004484.4(GPC3):c.115C>T (p.Arg39Cys) rs757475450 0.00002
NM_004484.4(GPC3):c.485A>G (p.Asn162Ser) rs780431445 0.00002
NM_004484.4(GPC3):c.1070A>G (p.Tyr357Cys) rs757269723 0.00001
NM_004484.4(GPC3):c.118T>C (p.Ser40Pro) rs1238291553 0.00001
NM_004484.4(GPC3):c.1277A>G (p.Gln426Arg) rs749874149 0.00001
NM_004484.4(GPC3):c.1292+6C>T rs1207247416 0.00001
NM_004484.4(GPC3):c.1568T>C (p.Leu523Pro) rs1015207544 0.00001
NM_004484.4(GPC3):c.797A>G (p.Gln266Arg) rs765072095 0.00001
NM_004484.4(GPC3):c.865G>A (p.Val289Met) rs1456458902 0.00001
NM_004484.4(GPC3):c.-1G>C rs2076564315
NM_004484.4(GPC3):c.1051C>T (p.His351Tyr) rs2071153064
NM_004484.4(GPC3):c.1293-10A>G
NM_004484.4(GPC3):c.140C>T (p.Pro47Leu) rs2076562505
NM_004484.4(GPC3):c.1454A>C (p.Asp485Ala) rs2069918325
NM_004484.4(GPC3):c.1562G>A (p.Arg521His) rs2069915768
NM_004484.4(GPC3):c.1640A>G (p.Asn547Ser) rs2069289549
NM_004484.4(GPC3):c.1645A>G (p.Ile549Val) rs2124257541
NM_004484.4(GPC3):c.1736_1737del (p.Val579fs)
NM_004484.4(GPC3):c.467T>A (p.Ile156Asn) rs2124480768
NM_004484.4(GPC3):c.553C>T (p.Pro185Ser)
NM_004484.4(GPC3):c.695C>A (p.Ala232Asp) rs1206002281
NM_004484.4(GPC3):c.913G>A (p.Glu305Lys) rs903266102

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