ClinVar Miner

List of variants in gene PGM1 reported as pathogenic for cardiovascular disorder

Included ClinVar conditions (1426):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_002633.3(PGM1):c.787G>T (p.Asp263Tyr) rs587777404 0.00004
NM_002633.3(PGM1):c.988G>C (p.Gly330Arg) rs777164338 0.00004
NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter) rs745993071 0.00001
NM_002633.3(PGM1):c.1507C>T (p.Arg503Ter) rs397515423 0.00001
NM_002633.3(PGM1):c.1544G>A (p.Arg515Gln) rs1453920894 0.00001
NM_002633.3(PGM1):c.1547T>C (p.Leu516Pro) rs587777401 0.00001
NM_002633.3(PGM1):c.343A>G (p.Thr115Ala) rs121918371 0.00001
NM_002633.3(PGM1):c.649C>T (p.Arg217Ter) rs770066171 0.00001
NM_002633.3(PGM1):c.1086dup (p.Gly363fs) rs1170935238
NM_002633.3(PGM1):c.1091del (p.Asn364fs) rs1557437034
NM_002633.3(PGM1):c.1145-1G>C rs587776801
NM_002633.3(PGM1):c.1378_1379del (p.Ala461fs) rs763428801
NM_002633.3(PGM1):c.1474del (p.Leu492fs) rs1376645472
NM_002633.3(PGM1):c.1500del (p.Ile500fs)
NM_002633.3(PGM1):c.361G>C (p.Gly121Arg) rs398122912
NM_002633.3(PGM1):c.423del (p.Ala142fs) rs2100982320
NM_002633.3(PGM1):c.511G>T (p.Gly171Ter)
NM_002633.3(PGM1):c.661del (p.Arg221fs) rs587777405
NM_002633.3(PGM1):c.689dup (p.Pro231fs)
NM_002633.3(PGM1):c.696_699del (p.Pro231_Tyr232insTer)
NM_002633.3(PGM1):c.877C>T (p.Arg293Ter)
NM_002633.3(PGM1):c.929_930del (p.Val310fs) rs2100988650
NM_002633.3(PGM1):c.946_997dup (p.Arg333fs)
PGM1, ARG521TER

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