ClinVar Miner

List of variants studied for PGM1-CDG by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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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.*388T>G
NM_002633.3(PGM1):c.*406T>C
NM_002633.3(PGM1):c.*484G>A
NM_002633.3(PGM1):c.*484G>C
NM_002633.3(PGM1):c.*72A>G rs761043925
NM_002633.3(PGM1):c.*93A>C rs4643
NM_002633.3(PGM1):c.-39C>G
NM_002633.3(PGM1):c.1028+11C>A rs541069522
NM_002633.3(PGM1):c.1029-8C>G
NM_002633.3(PGM1):c.1065C>A (p.Thr355=)
NM_002633.3(PGM1):c.107C>A (p.Ala36Glu)
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.1143C>T (p.Thr381=) rs140035988
NM_002633.3(PGM1):c.1144+10A>G rs886046482
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.1311C>T (p.Gly437=)
NM_002633.3(PGM1):c.1336G>A (p.Glu446Lys) rs199918985
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.1540A>G (p.Ile514Val)
NM_002633.3(PGM1):c.1599+9C>T rs115864084
NM_002633.3(PGM1):c.160G>A (p.Glu54Lys)
NM_002633.3(PGM1):c.244G>T (p.Gly82Trp)
NM_002633.3(PGM1):c.247-5C>T
NM_002633.3(PGM1):c.262A>G (p.Ile88Val) rs855314
NM_002633.3(PGM1):c.327T>C (p.Ile109=)
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.442T>G (p.Phe148Val) rs755467080
NM_002633.3(PGM1):c.661C>T (p.Arg221Cys) rs1126728
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.741G>A (p.Ser247=) rs142222746
NM_002633.3(PGM1):c.783C>T (p.His261=) rs886046481
NM_002633.3(PGM1):c.827T>G (p.Met276Arg)
NM_002633.3(PGM1):c.900T>C (p.His300=) rs145807501
NM_002633.3(PGM1):c.985C>T (p.Arg329Cys) rs778199808
NM_002633.3(PGM1):c.987C>T (p.Arg329=) rs79097301

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