ClinVar Miner

List of variants in gene PGM1 studied for PGM1-CDG

Included ClinVar conditions (1):
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Total variants: 52
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HGVS dbSNP
NM_002633.3(PGM1):c.*130C>T rs2749098
NM_002633.3(PGM1):c.*198C>T rs10909
NM_002633.3(PGM1):c.*22C>T rs8294
NM_002633.3(PGM1):c.*231C>T rs886046483
NM_002633.3(PGM1):c.*236T>C rs534628770
NM_002633.3(PGM1):c.*348G>A rs58522038
NM_002633.3(PGM1):c.*357A>G rs886046484
NM_002633.3(PGM1):c.*37G>A rs61765314
NM_002633.3(PGM1):c.*72A>G rs761043925
NM_002633.3(PGM1):c.*93A>C rs4643
NM_002633.3(PGM1):c.1014T>A (p.Ser338Arg) rs1553121290
NM_002633.3(PGM1):c.1028+11C>A rs541069522
NM_002633.3(PGM1):c.1086dup (p.Gly363fs)
NM_002633.3(PGM1):c.1091del (p.Asn364fs) rs1557437034
NM_002633.3(PGM1):c.1103C>T (p.Ala368Val) rs145972303
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg) rs200407907
NM_002633.3(PGM1):c.112A>T (p.Asn38Tyr) rs587777402
NM_002633.3(PGM1):c.1143C>T (p.Thr381=) rs140035988
NM_002633.3(PGM1):c.1144+10A>G rs886046482
NM_002633.3(PGM1):c.1145-1G>C rs587776801
NM_002633.3(PGM1):c.1145-7C>G rs72922609
NM_002633.3(PGM1):c.1195C>G (p.Leu399Val) rs200065327
NM_002633.3(PGM1):c.1258T>C (p.Tyr420His) rs11208257
NM_002633.3(PGM1):c.1280+7C>T rs72922610
NM_002633.3(PGM1):c.1336G>A (p.Glu446Lys) rs199918985
NM_002633.3(PGM1):c.1376_1377TC[1] (p.Ala461fs)
NM_002633.3(PGM1):c.1400C>A (p.Thr467Asn) rs150266274
NM_002633.3(PGM1):c.1411G>A (p.Ala471Thr) rs148979330
NM_002633.3(PGM1):c.1464+14G>T rs2269238
NM_002633.3(PGM1):c.1500C>T (p.Ile500=) rs61737416
NM_002633.3(PGM1):c.1501G>A (p.Val501Ile) rs6676290
NM_002633.3(PGM1):c.1507C>T (p.Arg503Ter) rs397515423
NM_002633.3(PGM1):c.1543C>T (p.Arg515Trp)
NM_002633.3(PGM1):c.1547T>C (p.Leu516Pro) rs587777401
NM_002633.3(PGM1):c.1599+9C>T rs115864084
NM_002633.3(PGM1):c.184G>C (p.Asp62His) rs587777403
NM_002633.3(PGM1):c.253C>T (p.Arg85Cys)
NM_002633.3(PGM1):c.262A>G (p.Ile88Val) rs855314
NM_002633.3(PGM1):c.343A>G (p.Thr115Ala) rs121918371
NM_002633.3(PGM1):c.361G>C (p.Gly121Arg) rs398122912
NM_002633.3(PGM1):c.399T>C (p.Ile133=) rs1126727
NM_002633.3(PGM1):c.420A>G (p.Pro140=) rs141007881
NM_002633.3(PGM1):c.649C>T (p.Arg217Ter) rs770066171
NM_002633.3(PGM1):c.661C>T (p.Arg221Cys) rs1126728
NM_002633.3(PGM1):c.661del (p.Arg221fs) rs587777405
NM_002633.3(PGM1):c.696T>C (p.Tyr232=) rs886046480
NM_002633.3(PGM1):c.708C>G (p.Ile236Met) rs200237046
NM_002633.3(PGM1):c.783C>T (p.His261=) rs886046481
NM_002633.3(PGM1):c.787G>T (p.Asp263Tyr) rs587777404
NM_002633.3(PGM1):c.87_88del (p.Phe29fs)
NM_002633.3(PGM1):c.900T>C (p.His300=) rs145807501
NM_002633.3(PGM1):c.985C>T (p.Arg329Cys) rs778199808

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