ClinVar Miner

List of variants in gene PGM1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 131
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HGVS dbSNP gnomAD frequency
NM_002633.3(PGM1):c.683-22A>T rs6588052 0.45082
NM_002633.3(PGM1):c.1028+55A>G rs2269248 0.44408
NM_002633.3(PGM1):c.873+194A>G rs2301057 0.41919
NM_002633.3(PGM1):c.1145-299T>C rs855330 0.37551
NM_002633.3(PGM1):c.1600-433A>T rs2658432 0.31370
NM_002633.3(PGM1):c.1600-427G>A rs2819176 0.31199
NM_002633.3(PGM1):c.1600-278G>T rs2749100 0.31157
NM_002633.3(PGM1):c.1600-185T>C rs11208264 0.29836
NM_002633.3(PGM1):c.1600-23G>T rs11208265 0.29721
NM_002633.3(PGM1):c.1464+14G>T rs2269238 0.25474
NM_002633.3(PGM1):c.1145-232A>T rs10889435 0.25303
NM_002633.3(PGM1):c.661C>T (p.Arg221Cys) rs1126728 0.22903
NM_002633.3(PGM1):c.1258T>C (p.Tyr420His) rs11208257 0.21027
NM_002633.3(PGM1):c.1280+106G>T rs11576729 0.21024
NM_002633.3(PGM1):c.246+547del rs3216690 0.19361
NM_002633.3(PGM1):c.*198C>T rs10909 0.18377
NM_002633.3(PGM1):c.1600-506C>T rs11208262 0.17198
NM_002633.3(PGM1):c.*93A>C rs4643 0.17191
NM_002633.3(PGM1):c.*22C>T rs8294 0.17190
NM_002633.3(PGM1):c.262A>G (p.Ile88Val) rs855314 0.16859
NM_002633.3(PGM1):c.246+458T>A rs61003960 0.15032
NM_002633.3(PGM1):c.247-316G>A rs10489612 0.13886
NM_002633.3(PGM1):c.247-54G>T rs855313 0.11701
NM_002633.3(PGM1):c.1029-257A>G rs855309 0.09448
NM_002633.3(PGM1):c.556+103G>A rs72681118 0.07410
NM_002633.3(PGM1):c.1465-102A>T rs6700205 0.06497
NM_002633.3(PGM1):c.246+515T>C rs113240691 0.06037
NM_002633.3(PGM1):c.1029-49C>T rs11581836 0.05821
NM_002633.3(PGM1):c.1501G>A (p.Val501Ile) rs6676290 0.04986
NM_002633.3(PGM1):c.247-6087T>G rs72920860 0.04906
NM_002633.3(PGM1):c.247-6445A>G rs72920859 0.04899
NM_002633.3(PGM1):c.1144+236G>A rs6691217 0.04710
NM_002633.3(PGM1):c.410-120T>C rs74081406 0.04372
NM_002633.3(PGM1):c.556+77G>C rs76415925 0.04237
NM_002633.3(PGM1):c.1145-7C>G rs72922609 0.04055
NM_002633.3(PGM1):c.683-23C>T rs114718153 0.02871
NM_002633.3(PGM1):c.1599+221T>C rs58650692 0.02869
NM_002633.3(PGM1):c.1280+7C>T rs72922610 0.02818
NM_002633.3(PGM1):c.873+191C>T rs2301058 0.02764
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.1144+74T>C rs79202871 0.02294
NM_002633.3(PGM1):c.247-6436G>A rs115838878 0.02117
NM_002633.3(PGM1):c.1145-298G>A rs115080103 0.02076
NM_002633.3(PGM1):c.1600-109T>G rs2749099 0.01733
NM_002633.3(PGM1):c.1600-136_1600-135del rs68091977 0.01727
NM_002633.3(PGM1):c.*130C>T rs2749098 0.01573
NM_002633.3(PGM1):c.1500C>T (p.Ile500=) rs61737416 0.01523
NM_002633.3(PGM1):c.1465-226T>C rs115116582 0.01520
NM_002633.3(PGM1):c.1599+45G>A rs76573933 0.01520
NM_002633.3(PGM1):c.1599+9C>T rs115864084 0.01520
NM_002633.3(PGM1):c.1465-106A>G rs116590701 0.01518
NM_002633.3(PGM1):c.1029-101A>G rs115733696 0.01426
NM_002633.3(PGM1):c.*406T>C rs11557104 0.01321
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.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.572C>T (p.Ser191Leu) rs147971989 0.00072
NM_002633.3(PGM1):c.247-5810G>A rs140738630 0.00071
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.734C>T (p.Ala245Val) rs929270819 0.00025
NM_002633.3(PGM1):c.735G>A (p.Ala245=) rs146028700 0.00023
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.529T>G (p.Leu177Val) rs112293909 0.00014
NM_002633.3(PGM1):c.294T>A (p.Ala98=) rs777459281 0.00010
NM_002633.3(PGM1):c.253C>T (p.Arg85Cys) rs150286818 0.00009
NM_002633.3(PGM1):c.442T>G (p.Phe148Val) rs755467080 0.00006
NM_002633.3(PGM1):c.975G>T (p.Gln325His) rs574355735 0.00006
NM_002633.3(PGM1):c.1160G>A (p.Arg387His) rs548040301 0.00004
NM_002633.3(PGM1):c.1465G>T (p.Gly489Cys) rs747867084 0.00004
NM_002633.3(PGM1):c.650G>A (p.Arg217Gln) rs188291855 0.00004
NM_002633.3(PGM1):c.787G>T (p.Asp263Tyr) rs587777404 0.00004
NM_002633.3(PGM1):c.1028+10T>C rs1180441863 0.00003
NM_002633.3(PGM1):c.1027C>T (p.Arg343Trp) rs577589562 0.00002
NM_002633.3(PGM1):c.1104G>A (p.Ala368=) rs776558188 0.00002
NM_002633.3(PGM1):c.1264C>T (p.Arg422Trp) rs748019294 0.00001
NM_002633.3(PGM1):c.1324A>G (p.Met442Val) rs1270696636 0.00001
NM_002633.3(PGM1):c.1507C>T (p.Arg503Ter) rs397515423 0.00001
NM_002633.3(PGM1):c.1552A>G (p.Ile518Val) rs147386893 0.00001
NM_002633.3(PGM1):c.1577C>G (p.Ala526Gly) rs757573887 0.00001
NM_002633.3(PGM1):c.1605G>C (p.Met535Ile) rs745729340 0.00001
NM_002633.3(PGM1):c.1614C>T (p.Pro538=) rs775453982 0.00001
NM_002633.3(PGM1):c.216G>A (p.Gln72=) rs1280037054 0.00001
NM_002633.3(PGM1):c.247-5801A>G rs766980300 0.00001
NM_002633.3(PGM1):c.649C>T (p.Arg217Ter) rs770066171 0.00001
NM_002633.3(PGM1):c.985C>T (p.Arg329Cys) rs778199808 0.00001
GRCh37/hg19 1p31.3(chr1:64102589-64190341)x1
NM_002633.3(PGM1):c.*484G>A rs755055776
NM_002633.3(PGM1):c.1014T>A (p.Ser338Arg) rs1553121290
NM_002633.3(PGM1):c.1029-188_1029-175del rs138231758
NM_002633.3(PGM1):c.1087G>C (p.Gly363Arg)
NM_002633.3(PGM1):c.1144+3A>T
NM_002633.3(PGM1):c.1186C>G (p.Leu396Val)
NM_002633.3(PGM1):c.1214G>A (p.Arg405His)
NM_002633.3(PGM1):c.1312G>A (p.Ala438Thr)
NM_002633.3(PGM1):c.1411G>A (p.Ala471Thr) rs148979330
NM_002633.3(PGM1):c.1464+215G>A rs6669179
NM_002633.3(PGM1):c.1464+215G>C rs6669179
NM_002633.3(PGM1):c.1488T>C (p.Asp496=) rs1057519218
NM_002633.3(PGM1):c.1514G>A (p.Ser505Asn)
NM_002633.3(PGM1):c.1551C>A (p.Tyr517Ter) rs1557445467
NM_002633.3(PGM1):c.1556A>C (p.Asp519Ala)
NM_002633.3(PGM1):c.200T>G (p.Met67Arg) rs1553176823
NM_002633.3(PGM1):c.246+320G>C rs113848886
NM_002633.3(PGM1):c.247-5872C>T
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.414T>G (p.Pro138=)
NM_002633.3(PGM1):c.636T>C (p.Leu212=)
NM_002633.3(PGM1):c.682+197G>A rs57088403
NM_002633.3(PGM1):c.683-23_683-22delinsTT rs386631849
NM_002633.3(PGM1):c.754G>C (p.Val252Leu) rs139155697
NM_002633.3(PGM1):c.804T>A (p.Tyr268Ter) rs1302961946
NM_002633.3(PGM1):c.929T>C (p.Val310Ala)
NM_002633.3(PGM1):c.997C>T (p.Arg333Trp)

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