ClinVar Miner

List of variants in gene PGM1 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
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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.1029-188_1029-175del rs138231758
NM_002633.3(PGM1):c.1464+215G>A rs6669179
NM_002633.3(PGM1):c.1464+215G>C rs6669179

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