ClinVar Miner

List of variants in gene IGFALS reported as uncertain significance by GeneDx

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_004970.3(IGFALS):c.1708G>A (p.Asp570Asn) rs143070371 0.00070
NM_004970.3(IGFALS):c.65C>T (p.Pro22Leu) rs199804680 0.00065
NM_004970.3(IGFALS):c.634G>A (p.Ala212Thr) rs368097770 0.00031
NM_004970.3(IGFALS):c.154G>A (p.Asp52Asn) rs199507191 0.00011
NM_004970.3(IGFALS):c.418G>A (p.Gly140Ser) rs549056265 0.00004
NM_004970.3(IGFALS):c.655G>A (p.Glu219Lys) rs779121185 0.00003
NM_004970.3(IGFALS):c.898A>G (p.Asn300Asp) rs1172812314 0.00002
NM_004970.3(IGFALS):c.1477C>T (p.Arg493Cys) rs544452737 0.00001
NM_004970.3(IGFALS):c.172G>A (p.Val58Ile) rs1356178734 0.00001
NM_004970.3(IGFALS):c.519G>A (p.Trp173Ter) rs752030883 0.00001
NM_004970.3(IGFALS):c.773C>T (p.Ala258Val) rs754732601 0.00001
NM_004970.3(IGFALS):c.810G>C (p.Trp270Cys) rs534175817 0.00001
NM_004970.3(IGFALS):c.1225C>T (p.Leu409Phe)
NM_004970.3(IGFALS):c.1424C>T (p.Ala475Val)
NM_004970.3(IGFALS):c.1444C>T (p.Gln482Ter)
NM_004970.3(IGFALS):c.1772G>A (p.Gly591Glu) rs2142010110
NM_004970.3(IGFALS):c.1818A>T (p.Ter606Cys) rs2548155521
NM_004970.3(IGFALS):c.313C>A (p.Leu105Met)
NM_004970.3(IGFALS):c.451C>G (p.Leu151Val)
NM_004970.3(IGFALS):c.523C>T (p.Leu175Phe)
NM_004970.3(IGFALS):c.58C>A (p.Leu20Met)
NM_004970.3(IGFALS):c.751C>T (p.Arg251Cys) rs141404750
NM_004970.3(IGFALS):c.775C>A (p.Pro259Thr) rs2548156584
NM_004970.3(IGFALS):c.776C>T (p.Pro259Leu)
NM_004970.3(IGFALS):c.833T>G (p.Val278Gly) rs1472084658
NM_004970.3(IGFALS):c.89C>T (p.Pro30Leu)

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