ClinVar Miner

List of variants in gene PGM1 reported as likely benign for cardiomyopathy

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_002633.3(PGM1):c.661C>T (p.Arg221Cys) rs1126728 0.22903
NM_002633.3(PGM1):c.*198C>T rs10909 0.18377
NM_002633.3(PGM1):c.*93A>C rs4643 0.17191
NM_002633.3(PGM1):c.1501G>A (p.Val501Ile) rs6676290 0.04986
NM_002633.3(PGM1):c.1145-7C>G rs72922609 0.04055
NM_002633.3(PGM1):c.1280+7C>T rs72922610 0.02818
NM_002633.3(PGM1):c.*37G>A rs61765314 0.02669
NM_002633.3(PGM1):c.399T>C (p.Ile133=) rs1126727 0.02624
NM_002633.3(PGM1):c.1500C>T (p.Ile500=) rs61737416 0.01523
NM_002633.3(PGM1):c.*406T>C rs11557104 0.01321
NM_002633.3(PGM1):c.247-5696A>T rs200881174 0.00069
NM_002633.3(PGM1):c.1290C>T (p.Tyr430=) rs140357031 0.00038
NM_002633.3(PGM1):c.1103C>T (p.Ala368Val) rs145972303 0.00026
NM_002633.3(PGM1):c.735G>A (p.Ala245=) rs146028700 0.00023
NM_002633.3(PGM1):c.420A>G (p.Pro140=) rs141007881 0.00021
NM_002633.3(PGM1):c.1137C>T (p.Phe379=) rs367648776 0.00016
NM_002633.3(PGM1):c.1515C>T (p.Ser505=) rs61760978 0.00016
NM_002633.3(PGM1):c.900T>C (p.His300=) rs145807501 0.00016
NM_002633.3(PGM1):c.1028+11C>A rs541069522 0.00011
NM_002633.3(PGM1):c.1101C>T (p.Asp367=) rs375432694 0.00010
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg) rs200407907 0.00010
NM_002633.3(PGM1):c.294T>A (p.Ala98=) rs777459281 0.00010
NM_002633.3(PGM1):c.963G>A (p.Pro321=) rs373693932 0.00010
NM_002633.3(PGM1):c.1248T>C (p.His416=) rs754762400 0.00006
NM_002633.3(PGM1):c.442T>G (p.Phe148Val) rs755467080 0.00006
NM_002633.3(PGM1):c.1257G>A (p.Lys419=) rs371451091 0.00005
NM_002633.3(PGM1):c.1023G>A (p.Leu341=) rs750218135 0.00004
NM_002633.3(PGM1):c.1144+10A>G rs886046482 0.00003
NM_002633.3(PGM1):c.264C>T (p.Ile88=) rs200946909 0.00003
NM_002633.3(PGM1):c.1104G>A (p.Ala368=) rs776558188 0.00002
NM_002633.3(PGM1):c.1170T>C (p.Asp390=) rs779705334 0.00002
NM_002633.3(PGM1):c.1144+16G>A rs755514698 0.00001
NM_002633.3(PGM1):c.1476C>T (p.Leu492=) rs1649899491 0.00001
NM_002633.3(PGM1):c.1485A>G (p.Thr495=) rs1172911815 0.00001
NM_002633.3(PGM1):c.1614C>T (p.Pro538=) rs775453982 0.00001
NM_002633.3(PGM1):c.327T>C (p.Ile109=) rs770271653 0.00001
NM_002633.3(PGM1):c.1028+13A>G
NM_002633.3(PGM1):c.1028+18C>T
NM_002633.3(PGM1):c.1029-19T>C
NM_002633.3(PGM1):c.1029-8C>G rs752232600
NM_002633.3(PGM1):c.1044A>C (p.Thr348=)
NM_002633.3(PGM1):c.1065C>A (p.Thr355=) rs773677629
NM_002633.3(PGM1):c.1065C>T (p.Thr355=) rs773677629
NM_002633.3(PGM1):c.1145-10C>T
NM_002633.3(PGM1):c.1145-11C>T
NM_002633.3(PGM1):c.1145-6C>G
NM_002633.3(PGM1):c.1145-9C>G
NM_002633.3(PGM1):c.1191C>A (p.Ala397=)
NM_002633.3(PGM1):c.1206A>C (p.Leu402=) rs2100998429
NM_002633.3(PGM1):c.1209C>A (p.Ala403=)
NM_002633.3(PGM1):c.1233C>T (p.Asp411=)
NM_002633.3(PGM1):c.1239C>T (p.Leu413=)
NM_002633.3(PGM1):c.1254A>G (p.Gln418=)
NM_002633.3(PGM1):c.1280+12C>T
NM_002633.3(PGM1):c.1281-14G>A
NM_002633.3(PGM1):c.1281-15C>T
NM_002633.3(PGM1):c.1281-17T>A
NM_002633.3(PGM1):c.1281-5T>C
NM_002633.3(PGM1):c.1293G>A (p.Glu431=)
NM_002633.3(PGM1):c.1299G>A (p.Val433=)
NM_002633.3(PGM1):c.1371G>A (p.Lys457=)
NM_002633.3(PGM1):c.1401T>A (p.Thr467=)
NM_002633.3(PGM1):c.1413C>T (p.Ala471=)
NM_002633.3(PGM1):c.1422T>C (p.Phe474=)
NM_002633.3(PGM1):c.1431C>T (p.Ser477=)
NM_002633.3(PGM1):c.1455A>G (p.Ser485=)
NM_002633.3(PGM1):c.1464+14G>A rs2269238
NM_002633.3(PGM1):c.1464+15G>A rs748510501
NM_002633.3(PGM1):c.1464+9A>T
NM_002633.3(PGM1):c.1465-16_1465-15del
NM_002633.3(PGM1):c.1496G>A (p.Arg499Gln) rs770023140
NM_002633.3(PGM1):c.1524G>T (p.Gly508=)
NM_002633.3(PGM1):c.1530C>T (p.Ala510=)
NM_002633.3(PGM1):c.1600-13A>G
NM_002633.3(PGM1):c.1600-15C>G
NM_002633.3(PGM1):c.1668T>A (p.Thr556=)
NM_002633.3(PGM1):c.1668T>G (p.Thr556=) rs752885355
NM_002633.3(PGM1):c.247-7C>T rs1570493471
NM_002633.3(PGM1):c.249C>A (p.Ile83=) rs140086116
NM_002633.3(PGM1):c.249C>T (p.Ile83=) rs140086116
NM_002633.3(PGM1):c.261T>C (p.Val87=)
NM_002633.3(PGM1):c.282C>G (p.Leu94=)
NM_002633.3(PGM1):c.300C>G (p.Ser100=)
NM_002633.3(PGM1):c.336C>T (p.Ile112=)
NM_002633.3(PGM1):c.357C>T (p.Asn119=)
NM_002633.3(PGM1):c.360A>G (p.Pro120=)
NM_002633.3(PGM1):c.399T>A (p.Ile133=)
NM_002633.3(PGM1):c.409+12G>C
NM_002633.3(PGM1):c.410-11T>C
NM_002633.3(PGM1):c.410-13G>C
NM_002633.3(PGM1):c.410-18T>C
NM_002633.3(PGM1):c.414T>C (p.Pro138=)
NM_002633.3(PGM1):c.414T>G (p.Pro138=)
NM_002633.3(PGM1):c.540G>A (p.Lys180=)
NM_002633.3(PGM1):c.557-11del
NM_002633.3(PGM1):c.557-5C>T rs2100983821
NM_002633.3(PGM1):c.557-5del
NM_002633.3(PGM1):c.618T>C (p.Ser206=)
NM_002633.3(PGM1):c.648C>T (p.Asn216=)
NM_002633.3(PGM1):c.666T>C (p.Ile222=)
NM_002633.3(PGM1):c.682+20C>T
NM_002633.3(PGM1):c.683-6A>G
NM_002633.3(PGM1):c.723C>G (p.Leu241=)
NM_002633.3(PGM1):c.723C>T (p.Leu241=)
NM_002633.3(PGM1):c.729C>T (p.Ala243=)
NM_002633.3(PGM1):c.741G>A (p.Ser247=) rs142222746
NM_002633.3(PGM1):c.741G>C (p.Ser247=) rs142222746
NM_002633.3(PGM1):c.753C>T (p.Cys251=)
NM_002633.3(PGM1):c.759T>C (p.Pro253=)
NM_002633.3(PGM1):c.801C>A (p.Thr267=)
NM_002633.3(PGM1):c.816G>C (p.Leu272=)
NM_002633.3(PGM1):c.873+10A>G
NM_002633.3(PGM1):c.873+7A>T rs1176093923
NM_002633.3(PGM1):c.874-5C>T
NM_002633.3(PGM1):c.874-6C>A
NM_002633.3(PGM1):c.874-7C>T rs2100988580
NM_002633.3(PGM1):c.903G>A (p.Gly301=)
NM_002633.3(PGM1):c.981G>A (p.Gly327=)

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