ClinVar Miner

List of variants in gene PGM1 reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 163
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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 0.00123
NM_002633.3(PGM1):c.572C>T (p.Ser191Leu) rs147971989 0.00072
NM_002633.3(PGM1):c.247-5810G>A rs140738630 0.00071
NM_002633.3(PGM1):c.247-5696A>T rs200881174 0.00069
NM_002633.3(PGM1):c.1143C>T (p.Thr381=) rs140035988 0.00049
NM_002633.3(PGM1):c.1573G>A (p.Val525Ile) rs138680029 0.00029
NM_002633.3(PGM1):c.734C>T (p.Ala245Val) rs929270819 0.00025
NM_002633.3(PGM1):c.1103C>T (p.Ala368Val) rs145972303 0.00024
NM_002633.3(PGM1):c.1599+6G>T rs141133249 0.00022
NM_002633.3(PGM1):c.420A>G (p.Pro140=) rs141007881 0.00021
NM_002633.3(PGM1):c.1600-3C>T rs375450688 0.00015
NM_002633.3(PGM1):c.371A>G (p.Asn124Ser) rs367689770 0.00015
NM_002633.3(PGM1):c.900T>C (p.His300=) rs145807501 0.00015
NM_002633.3(PGM1):c.529T>G (p.Leu177Val) rs112293909 0.00014
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg) rs200407907 0.00013
NM_002633.3(PGM1):c.1028+11C>A rs541069522 0.00011
NM_002633.3(PGM1):c.1028G>A (p.Arg343Gln) rs370265239 0.00011
NM_002633.3(PGM1):c.253C>T (p.Arg85Cys) rs150286818 0.00009
NM_002633.3(PGM1):c.1525A>T (p.Ser509Cys) rs373881171 0.00008
NM_002633.3(PGM1):c.1058A>G (p.Tyr353Cys) rs141538833 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.*484G>A rs755055776 0.00005
NM_002633.3(PGM1):c.1195C>G (p.Leu399Val) rs200065327 0.00005
NM_002633.3(PGM1):c.1447A>G (p.Ser483Gly) rs201813332 0.00005
NM_002633.3(PGM1):c.494T>C (p.Val165Ala) rs766817670 0.00005
NM_002633.3(PGM1):c.*72A>G rs761043925 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.1465G>T (p.Gly489Cys) rs747867084 0.00004
NM_002633.3(PGM1):c.1599+5C>T rs779991522 0.00004
NM_002633.3(PGM1):c.650G>A (p.Arg217Gln) rs188291855 0.00004
NM_002633.3(PGM1):c.318C>G (p.Ile106Met) rs781551165 0.00003
NM_002633.3(PGM1):c.395A>G (p.Asn132Ser) rs139535773 0.00003
NM_002633.3(PGM1):c.836G>A (p.Gly279Glu) rs548066059 0.00003
NM_002633.3(PGM1):c.1144+10A>G rs886046482 0.00002
NM_002633.3(PGM1):c.1311C>T (p.Gly437=) rs774957793 0.00002
NM_002633.3(PGM1):c.1312G>A (p.Ala438Thr) rs201303497 0.00002
NM_002633.3(PGM1):c.1543C>T (p.Arg515Trp) rs775651976 0.00002
NM_002633.3(PGM1):c.247-5801A>G rs766980300 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.708C>G (p.Ile236Met) rs200237046 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.1083T>C (p.Phe361=) rs959308468 0.00001
NM_002633.3(PGM1):c.1102G>A (p.Ala368Thr) rs748252747 0.00001
NM_002633.3(PGM1):c.1115C>T (p.Ser372Phe) rs1322334231 0.00001
NM_002633.3(PGM1):c.1138G>A (p.Gly380Arg) rs751081628 0.00001
NM_002633.3(PGM1):c.1141A>G (p.Thr381Ala) rs756895090 0.00001
NM_002633.3(PGM1):c.1204C>G (p.Leu402Val) rs766113334 0.00001
NM_002633.3(PGM1):c.1214G>A (p.Arg405His) rs765556150 0.00001
NM_002633.3(PGM1):c.1234A>C (p.Ile412Leu) rs567337429 0.00001
NM_002633.3(PGM1):c.1264C>T (p.Arg422Trp) rs748019294 0.00001
NM_002633.3(PGM1):c.1291G>A (p.Glu431Lys) rs1476203008 0.00001
NM_002633.3(PGM1):c.1324A>G (p.Met442Val) rs1270696636 0.00001
NM_002633.3(PGM1):c.1336G>A (p.Glu446Lys) rs199918985 0.00001
NM_002633.3(PGM1):c.1367G>T (p.Gly456Val) rs777570538 0.00001
NM_002633.3(PGM1):c.1394T>A (p.Val465Asp) rs1472992493 0.00001
NM_002633.3(PGM1):c.1464+19G>C rs978460356 0.00001
NM_002633.3(PGM1):c.1552A>G (p.Ile518Val) rs147386893 0.00001
NM_002633.3(PGM1):c.1555G>A (p.Asp519Asn) rs766309260 0.00001
NM_002633.3(PGM1):c.1577C>G (p.Ala526Gly) rs757573887 0.00001
NM_002633.3(PGM1):c.1605G>C (p.Met535Ile) rs745729340 0.00001
NM_002633.3(PGM1):c.209C>T (p.Ala70Val) rs753363543 0.00001
NM_002633.3(PGM1):c.259G>A (p.Val87Ile) rs1649129027 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.460A>G (p.Ile154Val) rs772005776 0.00001
NM_002633.3(PGM1):c.463G>A (p.Glu155Lys) rs747172175 0.00001
NM_002633.3(PGM1):c.512G>A (p.Gly171Glu) rs766886656 0.00001
NM_002633.3(PGM1):c.556+3A>G rs755342874 0.00001
NM_002633.3(PGM1):c.574G>A (p.Val192Ile) rs1240060113 0.00001
NM_002633.3(PGM1):c.589A>G (p.Thr197Ala) rs1350740255 0.00001
NM_002633.3(PGM1):c.721C>T (p.Leu241Phe) rs775246896 0.00001
NM_002633.3(PGM1):c.783C>T (p.His261=) rs886046481 0.00001
NM_002633.3(PGM1):c.794A>G (p.Asn265Ser) rs745337103 0.00001
NM_002633.3(PGM1):c.838G>C (p.Glu280Gln) rs762323296 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.929T>C (p.Val310Ala) rs369532292 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>C rs755055776
NM_002633.3(PGM1):c.1014T>A (p.Ser338Arg) rs1553121290
NM_002633.3(PGM1):c.1019C>G (p.Ala340Gly) rs2523896255
NM_002633.3(PGM1):c.1029-8C>G rs752232600
NM_002633.3(PGM1):c.1052C>A (p.Ala351Asp) rs1649428617
NM_002633.3(PGM1):c.1052C>T (p.Ala351Val)
NM_002633.3(PGM1):c.1065C>A (p.Thr355=) rs773677629
NM_002633.3(PGM1):c.1067C>T (p.Pro356Leu) rs2523901421
NM_002633.3(PGM1):c.1081T>A (p.Phe361Ile) rs1405574547
NM_002633.3(PGM1):c.1087G>C (p.Gly363Arg)
NM_002633.3(PGM1):c.1106G>A (p.Ser369Asn) rs1570503800
NM_002633.3(PGM1):c.1123G>T (p.Gly375Trp) rs1479530334
NM_002633.3(PGM1):c.1133G>T (p.Ser378Ile)
NM_002633.3(PGM1):c.1144G>A (p.Gly382Ser) rs750763684
NM_002633.3(PGM1):c.1186C>G (p.Leu396Val) rs1649716470
NM_002633.3(PGM1):c.1201A>G (p.Ile401Val) rs760318393
NM_002633.3(PGM1):c.1213C>A (p.Arg405Ser) rs754131603
NM_002633.3(PGM1):c.1222A>G (p.Ser408Gly)
NM_002633.3(PGM1):c.1358C>G (p.Ser453Cys) rs1286125356
NM_002633.3(PGM1):c.1379C>T (p.Ser460Leu)
NM_002633.3(PGM1):c.1393G>A (p.Val465Ile) rs2523935479
NM_002633.3(PGM1):c.1411G>A (p.Ala471Thr) rs148979330
NM_002633.3(PGM1):c.1464+14_1464+15delinsTA rs2523936086
NM_002633.3(PGM1):c.1472G>A (p.Arg491His)
NM_002633.3(PGM1):c.1488T>C (p.Asp496=) rs1057519218
NM_002633.3(PGM1):c.1493C>T (p.Ser498Phe) rs776683132
NM_002633.3(PGM1):c.1495C>G (p.Arg499Gly)
NM_002633.3(PGM1):c.1514G>A (p.Ser505Asn) rs2523941940
NM_002633.3(PGM1):c.1523G>A (p.Gly508Glu) rs1273877478
NM_002633.3(PGM1):c.1531_1532inv (p.Gly511Pro)
NM_002633.3(PGM1):c.1538C>T (p.Thr513Ile) rs1443343042
NM_002633.3(PGM1):c.1540A>G (p.Ile514Val) rs1649904020
NM_002633.3(PGM1):c.1556A>C (p.Asp519Ala)
NM_002633.3(PGM1):c.1566G>C (p.Glu522Asp)
NM_002633.3(PGM1):c.1585A>T (p.Asn529Tyr) rs750869853
NM_002633.3(PGM1):c.1599+6G>A rs141133249
NM_002633.3(PGM1):c.1600-523G>A rs948326478
NM_002633.3(PGM1):c.1600G>A (p.Val534Ile) rs1223232446
NM_002633.3(PGM1):c.1624A>G (p.Ile542Val) rs768094055
NM_002633.3(PGM1):c.1627G>T (p.Ala543Ser)
NM_002633.3(PGM1):c.1664G>A (p.Arg555His) rs765405068
NM_002633.3(PGM1):c.1664G>C (p.Arg555Pro) rs765405068
NM_002633.3(PGM1):c.1678G>A (p.Val560Ile) rs1650066188
NM_002633.3(PGM1):c.200T>G (p.Met67Arg) rs1553176823
NM_002633.3(PGM1):c.203A>T (p.Lys68Met) rs200390982
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) rs2523874863
NM_002633.3(PGM1):c.320A>C (p.Lys107Thr)
NM_002633.3(PGM1):c.322G>A (p.Ala108Thr) rs1356647959
NM_002633.3(PGM1):c.326T>C (p.Ile109Thr) rs2523875154
NM_002633.3(PGM1):c.386T>C (p.Ile129Thr)
NM_002633.3(PGM1):c.409+6T>C rs2100982034
NM_002633.3(PGM1):c.458C>A (p.Thr153Lys)
NM_002633.3(PGM1):c.458C>T (p.Thr153Ile) rs748231449
NM_002633.3(PGM1):c.555A>C (p.Thr185=)
NM_002633.3(PGM1):c.602G>T (p.Ser201Ile) rs139241922
NM_002633.3(PGM1):c.606C>G (p.Ile202Met) rs1437580886
NM_002633.3(PGM1):c.691C>T (p.Pro231Ser) rs1649318233
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.754G>C (p.Val252Leu) rs139155697
NM_002633.3(PGM1):c.770T>C (p.Phe257Ser) rs777478453
NM_002633.3(PGM1):c.821A>G (p.Glu274Gly) rs1649324857
NM_002633.3(PGM1):c.827T>G (p.Met276Arg) rs1649325171
NM_002633.3(PGM1):c.839A>G (p.Glu280Gly)
NM_002633.3(PGM1):c.873+5G>T rs1649326823
NM_002633.3(PGM1):c.973C>A (p.Gln325Lys) rs1298824876
NM_002633.3(PGM1):c.980G>C (p.Gly327Ala) rs543997524
NM_002633.3(PGM1):c.980G>T (p.Gly327Val) rs543997524
NM_002633.3(PGM1):c.982G>A (p.Val328Ile)
NM_002633.3(PGM1):c.986G>T (p.Arg329Leu)
NM_002633.3(PGM1):c.997C>T (p.Arg333Trp)

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