ClinVar Miner

List of variants in gene PYGM reported as uncertain significance by Counsyl

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Total variants: 23
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HGVS dbSNP
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr) rs954192338
NM_005609.4(PYGM):c.1151C>T (p.Ala384Val) rs1465752595
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu) rs773204705
NM_005609.4(PYGM):c.1282C>T (p.Arg428Cys) rs750700202
NM_005609.4(PYGM):c.1312_1314dup (p.Lys438dup) rs1555135069
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu) rs756251887
NM_005609.4(PYGM):c.1463C>A (p.Thr488Asn) rs1555134900
NM_005609.4(PYGM):c.1465C>T (p.Pro489Ser) rs752622662
NM_005609.4(PYGM):c.152_154ACT[4] (p.Tyr53dup) rs1325298827
NM_005609.4(PYGM):c.2249_2251TCT[1] (p.Phe751del) rs758842259
NM_005609.4(PYGM):c.2312+3G>C rs1555133430
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln) rs150911354
NM_005609.4(PYGM):c.2527T>A (p.Ter843Arg) rs1400353740
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro) rs776680924
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp) rs367990192
NM_005609.4(PYGM):c.425-26A>G rs764313717
NM_005609.4(PYGM):c.475G>A (p.Gly159Arg) rs760654579
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys) rs200038732
NM_005609.4(PYGM):c.521G>A (p.Gly174Asp) rs1555136375
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258
NM_005609.4(PYGM):c.67_75del (p.Glu23_Val25del) rs1555136828
NM_005609.4(PYGM):c.736T>C (p.Ser246Pro) rs1555135785
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro) rs780375860

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