ClinVar Miner

List of variants in gene PYGM reported as uncertain significance for not specified

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_005609.4(PYGM):c.2286T>G (p.Ile762Met) rs75685607 0.00126
NM_005609.4(PYGM):c.999+20C>T rs201711087 0.00106
NM_005609.4(PYGM):c.160T>G (p.Phe54Val) rs148839812 0.00046
NM_005609.4(PYGM):c.2447G>A (p.Arg816His) rs139230055 0.00010
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp) rs558267822 0.00009
NM_005609.4(PYGM):c.1804C>T (p.Arg602Trp) rs750195683 0.00002
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu) rs756251887 0.00001
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp) rs377225525 0.00001
NM_005609.4(PYGM):c.475G>A (p.Gly159Arg) rs760654579 0.00001
NM_005609.4(PYGM):c.1058T>A (p.Ile353Asn)
NM_005609.4(PYGM):c.1463C>T (p.Thr488Ile) rs1555134900
NM_005609.4(PYGM):c.1624A>G (p.Asn542Asp) rs2135830822
NM_005609.4(PYGM):c.181C>T (p.Arg61Cys) rs1413461008
NM_005609.4(PYGM):c.2038A>G (p.Met680Val)
NM_005609.4(PYGM):c.2312+19G>A
NM_005609.4(PYGM):c.244-19C>T

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