ClinVar Miner

List of variants studied for PGM1-congenital disorder of glycosylation by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 274
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HGVS dbSNP gnomAD frequency
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.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.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.18A>G (p.Thr6=) rs111246749 0.00193
NM_002633.3(PGM1):c.1400C>A (p.Thr467Asn) rs150266274 0.00137
NM_002633.3(PGM1):c.572C>T (p.Ser191Leu) rs147971989 0.00072
NM_002633.3(PGM1):c.247-5696A>T rs200881174 0.00069
NM_002633.3(PGM1):c.1143C>T (p.Thr381=) rs140035988 0.00045
NM_002633.3(PGM1):c.1290C>T (p.Tyr430=) rs140357031 0.00038
NM_002633.3(PGM1):c.987C>T (p.Arg329=) rs79097301 0.00038
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.735G>A (p.Ala245=) rs146028700 0.00023
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.1137C>T (p.Phe379=) rs367648776 0.00016
NM_002633.3(PGM1):c.1515C>T (p.Ser505=) rs61760978 0.00016
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.1101C>T (p.Asp367=) rs375432694 0.00010
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg) rs200407907 0.00010
NM_002633.3(PGM1):c.294T>A (p.Ala98=) rs777459281 0.00010
NM_002633.3(PGM1):c.963G>A (p.Pro321=) rs373693932 0.00010
NM_002633.3(PGM1):c.253C>T (p.Arg85Cys) rs150286818 0.00009
NM_002633.3(PGM1):c.1248T>C (p.His416=) rs754762400 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.1257G>A (p.Lys419=) rs371451091 0.00005
NM_002633.3(PGM1):c.1023G>A (p.Leu341=) rs750218135 0.00004
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.1355G>A (p.Arg452His) rs147763516 0.00004
NM_002633.3(PGM1):c.178G>C (p.Gly60Arg) rs1287963513 0.00004
NM_002633.3(PGM1):c.57G>A (p.Thr19=) rs764100819 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.787G>T (p.Asp263Tyr) rs587777404 0.00004
NM_002633.3(PGM1):c.988G>C (p.Gly330Arg) rs777164338 0.00004
NM_002633.3(PGM1):c.99C>T (p.Ala33=) rs373394538 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.12C>A (p.Ile4=) rs775862619 0.00003
NM_002633.3(PGM1):c.138C>A (p.Thr46=) rs767357022 0.00003
NM_002633.3(PGM1):c.264C>T (p.Ile88=) rs200946909 0.00003
NM_002633.3(PGM1):c.318C>G (p.Ile106Met) rs781551165 0.00003
NM_002633.3(PGM1):c.64C>T (p.Leu22=) rs1395771160 0.00003
NM_002633.3(PGM1):c.1027C>T (p.Arg343Trp) rs577589562 0.00002
NM_002633.3(PGM1):c.1104G>A (p.Ala368=) rs776558188 0.00002
NM_002633.3(PGM1):c.1170T>C (p.Asp390=) rs779705334 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.1102G>A (p.Ala368Thr) rs748252747 0.00001
NM_002633.3(PGM1):c.1144+16G>A rs755514698 0.00001
NM_002633.3(PGM1):c.1367G>T (p.Gly456Val) rs777570538 0.00001
NM_002633.3(PGM1):c.1476C>T (p.Leu492=) rs1649899491 0.00001
NM_002633.3(PGM1):c.1485A>G (p.Thr495=) rs1172911815 0.00001
NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter) rs745993071 0.00001
NM_002633.3(PGM1):c.1507C>T (p.Arg503Ter) rs397515423 0.00001
NM_002633.3(PGM1):c.1544G>A (p.Arg515Gln) rs1453920894 0.00001
NM_002633.3(PGM1):c.1577C>G (p.Ala526Gly) rs757573887 0.00001
NM_002633.3(PGM1):c.159G>A (p.Gln53=) rs370087543 0.00001
NM_002633.3(PGM1):c.1614C>T (p.Pro538=) rs775453982 0.00001
NM_002633.3(PGM1):c.187G>T (p.Gly63Cys) rs759782258 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.649C>T (p.Arg217Ter) rs770066171 0.00001
NM_002633.3(PGM1):c.76G>A (p.Val26Met) rs1300863085 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.1014T>A (p.Ser338Arg) rs1553121290
NM_002633.3(PGM1):c.1019C>G (p.Ala340Gly)
NM_002633.3(PGM1):c.1028+13A>G
NM_002633.3(PGM1):c.1028+18C>T
NM_002633.3(PGM1):c.1029-19T>C
NM_002633.3(PGM1):c.1029-8C>G rs752232600
NM_002633.3(PGM1):c.1044A>C (p.Thr348=)
NM_002633.3(PGM1):c.1058A>G (p.Tyr353Cys)
NM_002633.3(PGM1):c.105C>T (p.Tyr35=)
NM_002633.3(PGM1):c.1065C>A (p.Thr355=) rs773677629
NM_002633.3(PGM1):c.1065C>T (p.Thr355=) rs773677629
NM_002633.3(PGM1):c.1067C>T (p.Pro356Leu)
NM_002633.3(PGM1):c.107C>A (p.Ala36Glu) rs146477640
NM_002633.3(PGM1):c.107C>T (p.Ala36Val)
NM_002633.3(PGM1):c.1081T>A (p.Phe361Ile)
NM_002633.3(PGM1):c.1083T>C (p.Phe361=)
NM_002633.3(PGM1):c.1086dup (p.Gly363fs) rs1170935238
NM_002633.3(PGM1):c.108G>A (p.Ala36=)
NM_002633.3(PGM1):c.1091del (p.Asn364fs) rs1557437034
NM_002633.3(PGM1):c.1106G>A (p.Ser369Asn)
NM_002633.3(PGM1):c.1115C>T (p.Ser372Phe)
NM_002633.3(PGM1):c.112A>T (p.Asn38Tyr) rs587777402
NM_002633.3(PGM1):c.1141A>G (p.Thr381Ala)
NM_002633.3(PGM1):c.1144G>A (p.Gly382Ser)
NM_002633.3(PGM1):c.1145-10C>T
NM_002633.3(PGM1):c.1145-11C>T
NM_002633.3(PGM1):c.1145-6C>G
NM_002633.3(PGM1):c.1145-6del rs2100998326
NM_002633.3(PGM1):c.1145-9C>G
NM_002633.3(PGM1):c.1191C>A (p.Ala397=)
NM_002633.3(PGM1):c.119T>C (p.Ile40Thr)
NM_002633.3(PGM1):c.119del (p.Ile40fs)
NM_002633.3(PGM1):c.1201A>G (p.Ile401Val) rs760318393
NM_002633.3(PGM1):c.1204C>G (p.Leu402Val)
NM_002633.3(PGM1):c.1206A>C (p.Leu402=) rs2100998429
NM_002633.3(PGM1):c.1209C>A (p.Ala403=)
NM_002633.3(PGM1):c.120C>G (p.Ile40Met)
NM_002633.3(PGM1):c.1213C>A (p.Arg405Ser) rs754131603
NM_002633.3(PGM1):c.1233C>T (p.Asp411=)
NM_002633.3(PGM1):c.1234A>C (p.Ile412Leu) rs567337429
NM_002633.3(PGM1):c.1239C>T (p.Leu413=)
NM_002633.3(PGM1):c.123G>A (p.Gln41=)
NM_002633.3(PGM1):c.1254A>G (p.Gln418=)
NM_002633.3(PGM1):c.125G>A (p.Ser42Asn) rs374207269
NM_002633.3(PGM1):c.1280+12C>T
NM_002633.3(PGM1):c.1280+22dup
NM_002633.3(PGM1):c.1281-14G>A
NM_002633.3(PGM1):c.1281-15C>T
NM_002633.3(PGM1):c.1281-17T>A
NM_002633.3(PGM1):c.1281-2A>G rs1649810314
NM_002633.3(PGM1):c.1281-5T>C
NM_002633.3(PGM1):c.1291G>A (p.Glu431Lys)
NM_002633.3(PGM1):c.1293G>A (p.Glu431=)
NM_002633.3(PGM1):c.1299G>A (p.Val433=)
NM_002633.3(PGM1):c.129C>T (p.Ile43=)
NM_002633.3(PGM1):c.1312G>A (p.Ala438Thr)
NM_002633.3(PGM1):c.134C>T (p.Ser45Phe)
NM_002633.3(PGM1):c.1358C>G (p.Ser453Cys)
NM_002633.3(PGM1):c.1371G>A (p.Lys457=)
NM_002633.3(PGM1):c.1378_1379del (p.Ala461fs) rs763428801
NM_002633.3(PGM1):c.1394T>A (p.Val465Asp)
NM_002633.3(PGM1):c.1401T>A (p.Thr467=)
NM_002633.3(PGM1):c.1411G>A (p.Ala471Thr) rs148979330
NM_002633.3(PGM1):c.1413C>T (p.Ala471=)
NM_002633.3(PGM1):c.1422T>C (p.Phe474=)
NM_002633.3(PGM1):c.1431C>T (p.Ser477=)
NM_002633.3(PGM1):c.1455A>G (p.Ser485=)
NM_002633.3(PGM1):c.1464+14G>A rs2269238
NM_002633.3(PGM1):c.1464+14_1464+15delinsTA
NM_002633.3(PGM1):c.1464+15G>A rs748510501
NM_002633.3(PGM1):c.1464+19G>C
NM_002633.3(PGM1):c.1464+9A>T
NM_002633.3(PGM1):c.1465-16_1465-15del
NM_002633.3(PGM1):c.1474del (p.Leu492fs) rs1376645472
NM_002633.3(PGM1):c.1496G>A (p.Arg499Gln) rs770023140
NM_002633.3(PGM1):c.1500del (p.Ile500fs)
NM_002633.3(PGM1):c.1523G>A (p.Gly508Glu)
NM_002633.3(PGM1):c.1524G>T (p.Gly508=)
NM_002633.3(PGM1):c.152A>G (p.Gln51Arg)
NM_002633.3(PGM1):c.1530C>T (p.Ala510=)
NM_002633.3(PGM1):c.1538C>T (p.Thr513Ile)
NM_002633.3(PGM1):c.1555G>A (p.Asp519Asn)
NM_002633.3(PGM1):c.155G>A (p.Arg52Gln) rs377179134
NM_002633.3(PGM1):c.156G>C (p.Arg52=)
NM_002633.3(PGM1):c.1573G>A (p.Val525Ile)
NM_002633.3(PGM1):c.157_158delinsG (p.Gln53fs) rs1647935062
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.1600-13A>G
NM_002633.3(PGM1):c.1600-15C>G
NM_002633.3(PGM1):c.1664G>A (p.Arg555His)
NM_002633.3(PGM1):c.1668T>A (p.Thr556=)
NM_002633.3(PGM1):c.1668T>G (p.Thr556=) rs752885355
NM_002633.3(PGM1):c.1678G>A (p.Val560Ile) rs1650066188
NM_002633.3(PGM1):c.168G>C (p.Thr56=)
NM_002633.3(PGM1):c.171G>A (p.Leu57=)
NM_002633.3(PGM1):c.180C>T (p.Gly60=)
NM_002633.3(PGM1):c.184G>C (p.Asp62His) rs587777403
NM_002633.3(PGM1):c.199A>G (p.Met67Val) rs561236041
NM_002633.3(PGM1):c.203A>T (p.Lys68Met)
NM_002633.3(PGM1):c.216G>C (p.Gln72His) rs1280037054
NM_002633.3(PGM1):c.243C>T (p.Asn81=)
NM_002633.3(PGM1):c.244G>T (p.Gly82Trp) rs199928376
NM_002633.3(PGM1):c.246+11C>T
NM_002633.3(PGM1):c.246+20_246+21delinsAA
NM_002633.3(PGM1):c.246+8A>G
NM_002633.3(PGM1):c.246G>A (p.Gly82=)
NM_002633.3(PGM1):c.247-7C>T rs1570493471
NM_002633.3(PGM1):c.249C>A (p.Ile83=) rs140086116
NM_002633.3(PGM1):c.249C>T (p.Ile83=) rs140086116
NM_002633.3(PGM1):c.24G>T (p.Lys8Asn)
NM_002633.3(PGM1):c.261T>C (p.Val87=)
NM_002633.3(PGM1):c.265_266delinsTT (p.Gly89Leu)
NM_002633.3(PGM1):c.282C>G (p.Leu94=)
NM_002633.3(PGM1):c.28_37del (p.Gln10fs) rs759220275
NM_002633.3(PGM1):c.300C>G (p.Ser100=)
NM_002633.3(PGM1):c.322G>A (p.Ala108Thr) rs1356647959
NM_002633.3(PGM1):c.326T>C (p.Ile109Thr)
NM_002633.3(PGM1):c.336C>T (p.Ile112=)
NM_002633.3(PGM1):c.357C>T (p.Asn119=)
NM_002633.3(PGM1):c.360A>G (p.Pro120=)
NM_002633.3(PGM1):c.38A>C (p.Gln13Pro)
NM_002633.3(PGM1):c.399T>A (p.Ile133=)
NM_002633.3(PGM1):c.409+12G>C
NM_002633.3(PGM1):c.409+6T>C rs2100982034
NM_002633.3(PGM1):c.410-11T>C
NM_002633.3(PGM1):c.410-13G>C
NM_002633.3(PGM1):c.410-18T>C
NM_002633.3(PGM1):c.414T>C (p.Pro138=)
NM_002633.3(PGM1):c.414T>G (p.Pro138=)
NM_002633.3(PGM1):c.42C>T (p.Asp14=)
NM_002633.3(PGM1):c.460A>G (p.Ile154Val)
NM_002633.3(PGM1):c.463G>A (p.Glu155Lys)
NM_002633.3(PGM1):c.48G>A (p.Lys16=)
NM_002633.3(PGM1):c.511G>T (p.Gly171Ter)
NM_002633.3(PGM1):c.512G>A (p.Gly171Glu)
NM_002633.3(PGM1):c.51G>C (p.Pro17=)
NM_002633.3(PGM1):c.540G>A (p.Lys180=)
NM_002633.3(PGM1):c.556+3A>G
NM_002633.3(PGM1):c.557-11del
NM_002633.3(PGM1):c.557-5C>T rs2100983821
NM_002633.3(PGM1):c.557-5del
NM_002633.3(PGM1):c.574G>A (p.Val192Ile)
NM_002633.3(PGM1):c.5T>G (p.Val2Gly)
NM_002633.3(PGM1):c.602G>T (p.Ser201Ile)
NM_002633.3(PGM1):c.606C>G (p.Ile202Met)
NM_002633.3(PGM1):c.60C>T (p.Ser20=)
NM_002633.3(PGM1):c.618T>C (p.Ser206=)
NM_002633.3(PGM1):c.648C>T (p.Asn216=)
NM_002633.3(PGM1):c.661del (p.Arg221fs) rs587777405
NM_002633.3(PGM1):c.666T>C (p.Ile222=)
NM_002633.3(PGM1):c.682+20C>T
NM_002633.3(PGM1):c.683-6A>G
NM_002633.3(PGM1):c.723C>G (p.Leu241=)
NM_002633.3(PGM1):c.723C>T (p.Leu241=)
NM_002633.3(PGM1):c.729C>T (p.Ala243=)
NM_002633.3(PGM1):c.741G>A (p.Ser247=) rs142222746
NM_002633.3(PGM1):c.741G>C (p.Ser247=) rs142222746
NM_002633.3(PGM1):c.753C>T (p.Cys251=)
NM_002633.3(PGM1):c.759T>C (p.Pro253=)
NM_002633.3(PGM1):c.770T>C (p.Phe257Ser)
NM_002633.3(PGM1):c.794A>G (p.Asn265Ser)
NM_002633.3(PGM1):c.801C>A (p.Thr267=)
NM_002633.3(PGM1):c.816G>C (p.Leu272=)
NM_002633.3(PGM1):c.821A>G (p.Glu274Gly)
NM_002633.3(PGM1):c.836G>A (p.Gly279Glu)
NM_002633.3(PGM1):c.838G>C (p.Glu280Gln)
NM_002633.3(PGM1):c.871G>A (p.Gly291Arg)
NM_002633.3(PGM1):c.873+10A>G
NM_002633.3(PGM1):c.873+5G>T
NM_002633.3(PGM1):c.873+7A>T rs1176093923
NM_002633.3(PGM1):c.874-5C>T
NM_002633.3(PGM1):c.874-6C>A
NM_002633.3(PGM1):c.874-7C>T rs2100988580
NM_002633.3(PGM1):c.877C>T (p.Arg293Ter)
NM_002633.3(PGM1):c.87_88del (p.Phe29fs) rs1570463842
NM_002633.3(PGM1):c.903G>A (p.Gly301=)
NM_002633.3(PGM1):c.90G>A (p.Gln30=)
NM_002633.3(PGM1):c.91A>G (p.Ser31Gly) rs2100947698
NM_002633.3(PGM1):c.929T>C (p.Val310Ala)
NM_002633.3(PGM1):c.929_930del (p.Val310fs) rs2100988650
NM_002633.3(PGM1):c.946_997dup (p.Arg333fs)
NM_002633.3(PGM1):c.973C>A (p.Gln325Lys)
NM_002633.3(PGM1):c.97G>C (p.Ala33Pro)
NM_002633.3(PGM1):c.980G>T (p.Gly327Val)
NM_002633.3(PGM1):c.981G>A (p.Gly327=)

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