ClinVar Miner

List of variants in gene GPC3 reported as likely benign for Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_004484.4(GPC3):c.1032+9C>T rs200782847 0.00069
NM_004484.4(GPC3):c.1232G>T (p.Ser411Ile) rs139206747 0.00010
NM_004484.4(GPC3):c.516C>T (p.Asp172=) rs369607601 0.00010
NM_004484.4(GPC3):c.648G>C (p.Met216Ile) rs752516966 0.00004
NM_004484.4(GPC3):c.972T>C (p.Phe324=) rs183678432 0.00004
NM_004484.4(GPC3):c.175+12T>G rs765877667 0.00002
NM_004484.4(GPC3):c.1698C>T (p.Thr566=) rs201310379 0.00001
NM_004484.4(GPC3):c.450A>G (p.Thr150=) rs1569426383 0.00001
NM_004484.4(GPC3):c.696T>C (p.Ala232=) rs2071695506 0.00001
NM_004484.4(GPC3):c.918T>C (p.Leu306=) rs753655328 0.00001
NM_004484.4(GPC3):c.338-20dup rs370737647
NM_004484.4(GPC3):c.338-5del rs370737647
NM_004484.4(GPC3):c.338-6_338-5dup rs370737647
NM_004484.4(GPC3):c.338-7_338-5del rs370737647

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