ClinVar Miner

List of variants in gene PGM1 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_002633.3(PGM1):c.1029-101A>G rs115733696 0.01426
NM_002633.3(PGM1):c.682+168A>G rs57723930 0.01298
NM_002633.3(PGM1):c.682+297C>G rs60970619 0.01298
NM_002633.3(PGM1):c.683-235C>G rs12028085 0.01058
NM_002633.3(PGM1):c.247-5664G>A rs77043134 0.01056
NM_002633.3(PGM1):c.247-6400T>A rs79017198 0.01055
NM_002633.3(PGM1):c.1600-518C>T rs143470567 0.00991
NM_002633.3(PGM1):c.246+312C>T rs185807432 0.00973
NM_002633.3(PGM1):c.556+216C>T rs79011721 0.00946
NM_002633.3(PGM1):c.556+47G>C rs80246885 0.00826
NM_002633.3(PGM1):c.1599+322A>G rs139938560 0.00706
NM_002633.3(PGM1):c.1029-261T>C rs116016851 0.00626
NM_002633.3(PGM1):c.556+288A>G rs114544456 0.00551
NM_002633.3(PGM1):c.683-291A>G rs183851972 0.00474
NM_002633.3(PGM1):c.1028+211C>T rs114455964 0.00400
NM_002633.3(PGM1):c.573G>A (p.Ser191=) rs112502842 0.00373
NM_002633.3(PGM1):c.556+177G>A rs146434036 0.00269
NM_002633.3(PGM1):c.1600-524C>T rs149245972 0.00058
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.1600-3C>T rs375450688 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.294T>A (p.Ala98=) rs777459281 0.00010
NM_002633.3(PGM1):c.963G>A (p.Pro321=) rs373693932 0.00010
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.1464+14G>A rs2269238
NM_002633.3(PGM1):c.1464+15G>A rs748510501
NM_002633.3(PGM1):c.1600-13_1600-12del rs1064794974
NM_002633.3(PGM1):c.1600-527C>T rs575689228
NM_002633.3(PGM1):c.246+320G>C rs113848886
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.409+19T>G rs780764308
NM_002633.3(PGM1):c.682+197G>A rs57088403
NM_002633.3(PGM1):c.741G>A (p.Ser247=) rs142222746

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