ClinVar Miner

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

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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_005609.4(PYGM):c.1239+72G>A rs192139668 0.01256
NM_005609.4(PYGM):c.1569C>G (p.Leu523=) rs114138772 0.01217
NM_005609.4(PYGM):c.661-551T>C rs72927074 0.01091
NM_005609.4(PYGM):c.1092+6dup rs368602234 0.00700
NM_005609.4(PYGM):c.243+167G>A rs182942896 0.00697
NM_005609.4(PYGM):c.1970-290C>T rs75024721 0.00550
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) rs113806080 0.00446
NM_005609.4(PYGM):c.345+37G>T rs114586736 0.00325
NM_005609.4(PYGM):c.2379+43C>T rs146320496 0.00260
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786 0.00232
NM_005609.4(PYGM):c.1403+24G>A rs71581782 0.00226
NM_005609.4(PYGM):c.577G>T (p.Ala193Ser) rs77656150 0.00209
NM_005609.4(PYGM):c.330C>T (p.Asp110=) rs114742918 0.00189
NM_005609.4(PYGM):c.*31G>A rs186598214 0.00179
NM_005609.4(PYGM):c.924C>T (p.Ile308=) rs139726186 0.00175
NM_005609.4(PYGM):c.1888G>A (p.Val630Met) rs115347245 0.00160
NM_005609.4(PYGM):c.2286T>G (p.Ile762Met) rs75685607 0.00126
NM_005609.4(PYGM):c.2109G>A (p.Glu703=) rs200537357 0.00120
NM_005609.4(PYGM):c.516C>T (p.Ser172=) rs147402432 0.00087
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) rs114468011 0.00081
NM_005609.4(PYGM):c.2112G>A (p.Ala704=) rs61737361 0.00068
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) rs61736659 0.00065
NM_005609.4(PYGM):c.1870G>A (p.Val624Ile) rs143217651 0.00026
NM_005609.4(PYGM):c.2268C>T (p.Pro756=) rs144229867 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.1143G>A (p.Leu381=) rs143401208 0.00021
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp) rs190548494 0.00016
NM_005609.4(PYGM):c.951C>T (p.Phe317=) rs71581789 0.00016
NM_005609.4(PYGM):c.981C>T (p.Phe327=) rs146289842 0.00016
NM_005609.4(PYGM):c.-24A>G rs187457841 0.00012
NM_005609.4(PYGM):c.2182A>G (p.Asn728Asp) rs200058475 0.00007
NM_005609.4(PYGM):c.390G>A (p.Ala130=) rs771873586 0.00006
NM_005609.4(PYGM):c.855+4C>T rs199834605 0.00005
NM_005609.4(PYGM):c.60C>T (p.Ala20=) rs770037071 0.00003
NM_005609.4(PYGM):c.661-4G>A rs200126118 0.00003
NM_005609.4(PYGM):c.345+18C>A rs763866615 0.00002
NM_005609.4(PYGM):c.402C>T (p.Asn134=) rs372262267 0.00002
NM_005609.4(PYGM):c.424+6A>G rs764920938 0.00002
NM_005609.4(PYGM):c.1383C>T (p.Ser461=) rs775978754 0.00001
NM_005609.4(PYGM):c.198G>C (p.Gly66=) rs776064700 0.00001
NM_005609.4(PYGM):c.285G>A (p.Thr95=) rs1392346032 0.00001
NM_005609.4(PYGM):c.723C>T (p.Thr241=) rs772848708 0.00001
NM_005609.4(PYGM):c.861C>T (p.Phe287=) rs768833092 0.00001
NM_005609.4(PYGM):c.975G>A (p.Thr325=) rs747106887 0.00001
NM_005609.4(PYGM):c.1339A>C (p.Ile447Leu) rs568496266
NM_005609.4(PYGM):c.1524C>T (p.Ile508=) rs540436223
NM_005609.4(PYGM):c.1621-19del rs571976523
NM_005609.4(PYGM):c.2177+20C>T
NM_005609.4(PYGM):c.2211T>G (p.Pro737=)
NM_005609.4(PYGM):c.2382C>T (p.Asn794=) rs540487525
NM_005609.4(PYGM):c.459G>C (p.Leu153=) rs775811645
NM_005609.4(PYGM):c.529-63_529-57del rs371984017
NM_005609.4(PYGM):c.660+134_660+135del rs375479669
NM_005609.4(PYGM):c.849T>C (p.Asn283=) rs1592413061

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