ClinVar Miner

List of variants in gene PYGM reported as likely benign for not specified

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Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896 0.00530
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) rs113806080 0.00446
NM_005609.4(PYGM):c.661-606A>C rs192786771 0.00300
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786 0.00232
NM_005609.4(PYGM):c.330C>T (p.Asp110=) rs114742918 0.00189
NM_005609.4(PYGM):c.924C>T (p.Ile308=) rs139726186 0.00175
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_005609.4(PYGM):c.1888G>A (p.Val630Met) rs115347245 0.00160
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys) rs116180923 0.00160
NM_005609.4(PYGM):c.424+17G>A rs202244109 0.00145
NM_005609.4(PYGM):c.999+20C>T rs201711087 0.00106
NM_005609.4(PYGM):c.516C>T (p.Ser172=) rs147402432 0.00087
NM_005609.4(PYGM):c.2112G>A (p.Ala704=) rs61737361 0.00068
NM_005609.4(PYGM):c.1083C>T (p.Asp361=) rs141959242 0.00062
NM_005609.4(PYGM):c.1870G>A (p.Val624Ile) rs143217651 0.00026
NM_005609.4(PYGM):c.612C>T (p.Tyr204=) rs200467937 0.00025
NM_005609.4(PYGM):c.729C>T (p.Arg243=) rs151160016 0.00024
NM_005609.4(PYGM):c.2177+7G>A rs201366697 0.00022
NM_005609.4(PYGM):c.981C>T (p.Phe327=) rs146289842 0.00016
NM_005609.4(PYGM):c.558C>T (p.Tyr186=) rs144298015 0.00015
NM_005609.4(PYGM):c.540C>T (p.Ala180=) rs148731983 0.00009
NM_005609.4(PYGM):c.120C>T (p.Leu40=) rs370819554 0.00008
NM_005609.4(PYGM):c.1239+18G>C rs533410561 0.00006
NM_005609.4(PYGM):c.2199C>T (p.Tyr733=) rs140102591 0.00006
NM_005609.4(PYGM):c.424+16C>T rs201194596 0.00004
NM_005609.4(PYGM):c.*11C>T rs763468272 0.00002
NM_005609.4(PYGM):c.2312+16C>T rs184694130 0.00002
NM_005609.4(PYGM):c.345+17G>A rs774602584 0.00002
NM_005609.4(PYGM):c.999+10G>A rs199638571 0.00002
NM_005609.4(PYGM):c.-15C>T rs544636087 0.00001
NM_005609.4(PYGM):c.1093-10C>T rs763253788 0.00001
NM_005609.4(PYGM):c.1215C>T (p.Tyr405=) rs371264447 0.00001
NM_005609.4(PYGM):c.1240-16G>A rs573898801 0.00001
NM_005609.4(PYGM):c.1769-3C>T rs748622689 0.00001
NM_005609.4(PYGM):c.2312+7del rs779743185 0.00001
NM_005609.4(PYGM):c.723C>T (p.Thr241=) rs772848708 0.00001
NM_005609.4(PYGM):c.773-18C>T rs758771932 0.00001
NM_005609.4(PYGM):c.975G>A (p.Thr325=) rs747106887 0.00001
NM_005609.4(PYGM):c.1518+7G>C rs749236693
NM_005609.4(PYGM):c.15G>C (p.Leu5=) rs886038565
NM_005609.4(PYGM):c.1621-19del rs571976523
NM_005609.4(PYGM):c.2312+13_2312+50del rs1555133408
NM_005609.4(PYGM):c.2382C>T (p.Asn794=) rs540487525
NM_005609.4(PYGM):c.2400G>A (p.Arg800=) rs1555133225
NM_005609.4(PYGM):c.2427T>G (p.Ser809=)
NM_005609.4(PYGM):c.244-5G>T rs772197464
NM_005609.4(PYGM):c.345+11G>A rs760751053
NM_005609.4(PYGM):c.424+9_424+12del rs1393111280
NM_005609.4(PYGM):c.522C>A (p.Gly174=) rs771328699
NM_005609.4(PYGM):c.660+13_660+15del rs760532304
NM_005609.4(PYGM):c.687G>C (p.Thr229=) rs764624576
NM_005609.4(PYGM):c.966C>T (p.Pro322=) rs377041639

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