ClinVar Miner

List of variants in gene PGM1 reported as benign for cardiomyopathy

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_002633.3(PGM1):c.683-22A>T rs6588052 0.45082
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.661C>T (p.Arg221Cys) rs1126728 0.22903
NM_002633.3(PGM1):c.1258T>C (p.Tyr420His) rs11208257 0.21027
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.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.399T>C (p.Ile133=) rs1126727 0.02624
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.1599+9C>T rs115864084 0.01520
NM_002633.3(PGM1):c.247-5664G>A rs77043134 0.01056
NM_002633.3(PGM1):c.573G>A (p.Ser191=) rs112502842 0.00373
NM_002633.3(PGM1):c.1400C>A (p.Thr467Asn) rs150266274 0.00137
NM_002633.3(PGM1):c.987C>T (p.Arg329=) rs79097301 0.00038
NM_002633.3(PGM1):c.1027C>T (p.Arg343Trp) rs577589562 0.00002
NM_002633.3(PGM1):c.1145-6del rs2100998326
NM_002633.3(PGM1):c.1280+22dup

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