ClinVar Miner

List of variants in gene PGM1 reported as uncertain significance for PGM1-congenital disorder of glycosylation

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 112
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HGVS dbSNP gnomAD frequency
NM_002633.3(PGM1):c.1400C>A (p.Thr467Asn) rs150266274 0.00137
NM_002633.3(PGM1):c.*236T>C rs534628770 0.00128
NM_002633.3(PGM1):c.572C>T (p.Ser191Leu) rs147971989 0.00072
NM_002633.3(PGM1):c.1143C>T (p.Thr381=) rs140035988 0.00045
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.420A>G (p.Pro140=) rs141007881 0.00021
NM_002633.3(PGM1):c.371A>G (p.Asn124Ser) rs367689770 0.00018
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.1028G>A (p.Arg343Gln) rs370265239 0.00013
NM_002633.3(PGM1):c.1028+11C>A rs541069522 0.00011
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg) rs200407907 0.00010
NM_002633.3(PGM1):c.253C>T (p.Arg85Cys) rs150286818 0.00009
NM_002633.3(PGM1):c.*72A>G rs761043925 0.00006
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.1048A>G (p.Ile350Val) rs751121095 0.00004
NM_002633.3(PGM1):c.1160G>A (p.Arg387His) rs548040301 0.00004
NM_002633.3(PGM1):c.1336G>A (p.Glu446Lys) rs199918985 0.00004
NM_002633.3(PGM1):c.1355G>A (p.Arg452His) rs147763516 0.00004
NM_002633.3(PGM1):c.650G>A (p.Arg217Gln) rs188291855 0.00004
NM_002633.3(PGM1):c.708C>G (p.Ile236Met) rs200237046 0.00004
NM_002633.3(PGM1):c.1144+10A>G rs886046482 0.00003
NM_002633.3(PGM1):c.1195C>G (p.Leu399Val) rs200065327 0.00003
NM_002633.3(PGM1):c.318C>G (p.Ile106Met) rs781551165 0.00003
NM_002633.3(PGM1):c.1311C>T (p.Gly437=) rs774957793 0.00002
NM_002633.3(PGM1):c.1543C>T (p.Arg515Trp) rs775651976 0.00002
NM_002633.3(PGM1):c.254G>A (p.Arg85His) rs200225686 0.00002
NM_002633.3(PGM1):c.602G>A (p.Ser201Asn) rs139241922 0.00002
NM_002633.3(PGM1):c.*348G>A rs58522038 0.00001
NM_002633.3(PGM1):c.*357A>G rs886046484 0.00001
NM_002633.3(PGM1):c.1102G>A (p.Ala368Thr) rs748252747 0.00001
NM_002633.3(PGM1):c.1367G>T (p.Gly456Val) rs777570538 0.00001
NM_002633.3(PGM1):c.1577C>G (p.Ala526Gly) rs757573887 0.00001
NM_002633.3(PGM1):c.265G>A (p.Gly89Arg) rs377500536 0.00001
NM_002633.3(PGM1):c.327T>C (p.Ile109=) rs770271653 0.00001
NM_002633.3(PGM1):c.356A>G (p.Asn119Ser) rs1213089649 0.00001
NM_002633.3(PGM1):c.425C>T (p.Ala142Val) rs1276461747 0.00001
NM_002633.3(PGM1):c.783C>T (p.His261=) rs886046481 0.00001
NM_002633.3(PGM1):c.873+6T>C rs368068987 0.00001
NM_002633.3(PGM1):c.878G>A (p.Arg293Gln) rs1466885233 0.00001
NM_002633.3(PGM1):c.985C>T (p.Arg329Cys) rs778199808 0.00001
NM_002633.3(PGM1):c.986G>A (p.Arg329His) rs747394265 0.00001
NC_000001.10:g.(?_64059160)_(64059425_?)dup
NM_002633.3(PGM1):c.*231C>T rs886046483
NM_002633.3(PGM1):c.*388T>G rs1650077445
NM_002633.3(PGM1):c.*484G>A rs755055776
NM_002633.3(PGM1):c.*484G>C rs755055776
NM_002633.3(PGM1):c.1014T>A (p.Ser338Arg) rs1553121290
NM_002633.3(PGM1):c.1019C>G (p.Ala340Gly)
NM_002633.3(PGM1):c.1029-8C>G rs752232600
NM_002633.3(PGM1):c.1058A>G (p.Tyr353Cys)
NM_002633.3(PGM1):c.1065C>A (p.Thr355=) rs773677629
NM_002633.3(PGM1):c.1067C>T (p.Pro356Leu)
NM_002633.3(PGM1):c.1081T>A (p.Phe361Ile)
NM_002633.3(PGM1):c.1083T>C (p.Phe361=)
NM_002633.3(PGM1):c.1106G>A (p.Ser369Asn)
NM_002633.3(PGM1):c.1115C>T (p.Ser372Phe)
NM_002633.3(PGM1):c.1138G>A (p.Gly380Arg)
NM_002633.3(PGM1):c.1141A>G (p.Thr381Ala)
NM_002633.3(PGM1):c.1144G>A (p.Gly382Ser)
NM_002633.3(PGM1):c.1201A>G (p.Ile401Val) rs760318393
NM_002633.3(PGM1):c.1204C>G (p.Leu402Val)
NM_002633.3(PGM1):c.1213C>A (p.Arg405Ser) rs754131603
NM_002633.3(PGM1):c.1234A>C (p.Ile412Leu) rs567337429
NM_002633.3(PGM1):c.1291G>A (p.Glu431Lys)
NM_002633.3(PGM1):c.1312G>A (p.Ala438Thr)
NM_002633.3(PGM1):c.1358C>G (p.Ser453Cys)
NM_002633.3(PGM1):c.1394T>A (p.Val465Asp)
NM_002633.3(PGM1):c.1411G>A (p.Ala471Thr) rs148979330
NM_002633.3(PGM1):c.1464+14_1464+15delinsTA
NM_002633.3(PGM1):c.1464+19G>C
NM_002633.3(PGM1):c.1523G>A (p.Gly508Glu)
NM_002633.3(PGM1):c.1538C>T (p.Thr513Ile)
NM_002633.3(PGM1):c.1540A>G (p.Ile514Val) rs1649904020
NM_002633.3(PGM1):c.1555G>A (p.Asp519Asn)
NM_002633.3(PGM1):c.1573G>A (p.Val525Ile)
NM_002633.3(PGM1):c.1585A>T (p.Asn529Tyr)
NM_002633.3(PGM1):c.1599+5C>T
NM_002633.3(PGM1):c.1599+6G>A
NM_002633.3(PGM1):c.1599+6G>T
NM_002633.3(PGM1):c.1600-523G>A
NM_002633.3(PGM1):c.1664G>A (p.Arg555His)
NM_002633.3(PGM1):c.1678G>A (p.Val560Ile) rs1650066188
NM_002633.3(PGM1):c.203A>T (p.Lys68Met)
NM_002633.3(PGM1):c.216G>C (p.Gln72His) rs1280037054
NM_002633.3(PGM1):c.247-5C>T rs1649127861
NM_002633.3(PGM1):c.265_266delinsTT (p.Gly89Leu)
NM_002633.3(PGM1):c.322G>A (p.Ala108Thr) rs1356647959
NM_002633.3(PGM1):c.326T>C (p.Ile109Thr)
NM_002633.3(PGM1):c.409+6T>C rs2100982034
NM_002633.3(PGM1):c.460A>G (p.Ile154Val)
NM_002633.3(PGM1):c.463G>A (p.Glu155Lys)
NM_002633.3(PGM1):c.512G>A (p.Gly171Glu)
NM_002633.3(PGM1):c.556+3A>G
NM_002633.3(PGM1):c.574G>A (p.Val192Ile)
NM_002633.3(PGM1):c.602G>T (p.Ser201Ile)
NM_002633.3(PGM1):c.606C>G (p.Ile202Met)
NM_002633.3(PGM1):c.696T>C (p.Tyr232=) rs886046480
NM_002633.3(PGM1):c.741G>A (p.Ser247=) rs142222746
NM_002633.3(PGM1):c.770T>C (p.Phe257Ser)
NM_002633.3(PGM1):c.794A>G (p.Asn265Ser)
NM_002633.3(PGM1):c.821A>G (p.Glu274Gly)
NM_002633.3(PGM1):c.827T>G (p.Met276Arg) rs1649325171
NM_002633.3(PGM1):c.836G>A (p.Gly279Glu)
NM_002633.3(PGM1):c.838G>C (p.Glu280Gln)
NM_002633.3(PGM1):c.873+5G>T
NM_002633.3(PGM1):c.929T>C (p.Val310Ala)
NM_002633.3(PGM1):c.973C>A (p.Gln325Lys)
NM_002633.3(PGM1):c.980G>T (p.Gly327Val)

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