ClinVar Miner

List of variants reported as uncertain significance for Glucose-6-phosphate transport defect by Invitae

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ClinVar version:
Total variants: 213
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HGVS dbSNP gnomAD frequency
NM_001164277.2(SLC37A4):c.539C>G (p.Ser180Cys) rs374991345 0.03070
NM_001164277.2(SLC37A4):c.242C>T (p.Ser81Phe) rs181879065 0.00051
NM_001164277.2(SLC37A4):c.205G>T (p.Val69Leu) rs375754042 0.00042
NM_001164277.2(SLC37A4):c.100G>A (p.Val34Ile) rs782644732 0.00039
NM_001164277.2(SLC37A4):c.1012T>C (p.Phe338Leu) rs200662873 0.00036
NM_001164277.2(SLC37A4):c.857G>A (p.Arg286Gln) rs548684318 0.00019
NM_001164277.2(SLC37A4):c.71A>G (p.Tyr24Cys) rs569831771 0.00010
NM_001164277.2(SLC37A4):c.871+6C>T rs377101167 0.00010
NM_001164277.2(SLC37A4):c.956G>A (p.Arg319Gln) rs782703235 0.00010
NM_001164277.2(SLC37A4):c.230G>T (p.Arg77Leu) rs370839177 0.00009
NM_001164277.2(SLC37A4):c.496C>T (p.Arg166Cys) rs11552539 0.00007
NM_001164277.2(SLC37A4):c.1073C>T (p.Pro358Leu) rs782025581 0.00006
NM_001164277.2(SLC37A4):c.377G>A (p.Arg126Gln) rs78735156 0.00006
NM_001164277.2(SLC37A4):c.631T>G (p.Leu211Val) rs537115620 0.00005
NM_001164277.2(SLC37A4):c.943A>G (p.Met315Val) rs782475284 0.00005
NM_001164277.2(SLC37A4):c.1159A>G (p.Ile387Val) rs782480303 0.00004
NM_001164277.2(SLC37A4):c.1220G>C (p.Ser407Thr) rs863224212 0.00004
NM_001164277.2(SLC37A4):c.29G>A (p.Arg10His) rs782500443 0.00004
NM_001164277.2(SLC37A4):c.700C>T (p.Leu234Phe) rs782616313 0.00004
NM_001164277.2(SLC37A4):c.703G>T (p.Val235Leu) rs141105181 0.00004
NM_001164277.2(SLC37A4):c.785+3A>G rs373543021 0.00004
NM_001164277.2(SLC37A4):c.141T>G (p.Asp47Glu) rs373540523 0.00003
NM_001164277.2(SLC37A4):c.515C>T (p.Ser172Phe) rs750732128 0.00003
NM_001164277.2(SLC37A4):c.544C>T (p.Leu182Phe) rs775311483 0.00003
NM_001164277.2(SLC37A4):c.590G>A (p.Arg197His) rs377180238 0.00003
NM_001164277.2(SLC37A4):c.878T>C (p.Leu293Pro) rs886042302 0.00003
NM_001164277.2(SLC37A4):c.1129G>A (p.Gly377Ser) rs782255299 0.00002
NM_001164277.2(SLC37A4):c.1175G>A (p.Ser392Asn) rs1035199340 0.00002
NM_001164277.2(SLC37A4):c.1252C>T (p.Arg418Cys) rs376140990 0.00002
NM_001164277.2(SLC37A4):c.839C>T (p.Ala280Val) rs555640045 0.00002
NM_001164277.2(SLC37A4):c.944T>C (p.Met315Thr) rs781834870 0.00002
NM_001164277.2(SLC37A4):c.955C>T (p.Arg319Trp) rs376730573 0.00002
NM_001164277.2(SLC37A4):c.1084T>G (p.Cys362Gly) rs958173659 0.00001
NM_001164277.2(SLC37A4):c.1103T>C (p.Ile368Thr) rs370696612 0.00001
NM_001164277.2(SLC37A4):c.1118C>G (p.Ala373Gly) rs193302901 0.00001
NM_001164277.2(SLC37A4):c.1124+2dup rs1459811938 0.00001
NM_001164277.2(SLC37A4):c.1130G>A (p.Gly377Asp) rs782665493 0.00001
NM_001164277.2(SLC37A4):c.1208T>C (p.Ile403Thr) rs1555190374 0.00001
NM_001164277.2(SLC37A4):c.1214C>T (p.Ala405Val) rs782753044 0.00001
NM_001164277.2(SLC37A4):c.145T>G (p.Leu49Val) rs1277675258 0.00001
NM_001164277.2(SLC37A4):c.149-3C>T rs782625122 0.00001
NM_001164277.2(SLC37A4):c.185T>G (p.Ile62Ser) rs1555191621 0.00001
NM_001164277.2(SLC37A4):c.202G>T (p.Gly68Trp) rs193302885 0.00001
NM_001164277.2(SLC37A4):c.23A>G (p.Tyr8Cys) rs782446107 0.00001
NM_001164277.2(SLC37A4):c.297A>G (p.Thr99=) rs1273132953 0.00001
NM_001164277.2(SLC37A4):c.310G>A (p.Ala104Thr) rs781808875 0.00001
NM_001164277.2(SLC37A4):c.323T>C (p.Phe108Ser) rs1210339491 0.00001
NM_001164277.2(SLC37A4):c.376C>T (p.Arg126Trp) rs946341075 0.00001
NM_001164277.2(SLC37A4):c.433A>G (p.Met145Val) rs863224210 0.00001
NM_001164277.2(SLC37A4):c.479C>G (p.Ala160Gly) rs1438731101 0.00001
NM_001164277.2(SLC37A4):c.503C>T (p.Thr168Met) rs754982680 0.00001
NM_001164277.2(SLC37A4):c.625G>C (p.Gly209Arg) rs1272300904 0.00001
NM_001164277.2(SLC37A4):c.68T>A (p.Leu23Gln) rs781982938 0.00001
NM_001164277.2(SLC37A4):c.761A>G (p.Glu254Gly) rs781834348 0.00001
NM_001164277.2(SLC37A4):c.76T>C (p.Phe26Leu) rs1468641405 0.00001
NM_001164277.2(SLC37A4):c.833T>A (p.Ile278Asn) rs193302900 0.00001
NM_001164277.2(SLC37A4):c.923T>C (p.Met308Thr) rs1555190738 0.00001
NM_001164277.2(SLC37A4):c.940T>C (p.Ser314Pro) rs1365079218 0.00001
NM_001164277.2(SLC37A4):c.986-12T>C rs1180556897 0.00001
NM_001164277.2(SLC37A4):c.989G>C (p.Trp330Ser) rs782282206 0.00001
NC_000011.9:g.(?_117856768)_(118972385_?)dup
NC_000011.9:g.(?_118895600)_(118972385_?)dup
NM_001164277.2(SLC37A4):c.1004G>A (p.Gly335Glu) rs1326123837
NM_001164277.2(SLC37A4):c.1013T>C (p.Phe338Ser)
NM_001164277.2(SLC37A4):c.1022C>T (p.Ser341Phe) rs938040106
NM_001164277.2(SLC37A4):c.1025C>T (p.Ser342Leu)
NM_001164277.2(SLC37A4):c.1036A>C (p.Ile346Leu)
NM_001164277.2(SLC37A4):c.1036A>G (p.Ile346Val)
NM_001164277.2(SLC37A4):c.1038T>C (p.Ile346=)
NM_001164277.2(SLC37A4):c.1054A>G (p.Ile352Val) rs1943524404
NM_001164277.2(SLC37A4):c.1063_1064delinsAG (p.Glu355Arg)
NM_001164277.2(SLC37A4):c.1064A>C (p.Glu355Ala)
NM_001164277.2(SLC37A4):c.1072C>T (p.Pro358Ser)
NM_001164277.2(SLC37A4):c.107C>T (p.Pro36Leu) rs781797026
NM_001164277.2(SLC37A4):c.1085G>C (p.Cys362Ser)
NM_001164277.2(SLC37A4):c.1099G>C (p.Ala367Pro)
NM_001164277.2(SLC37A4):c.1115T>C (p.Met372Thr) rs1555190443
NM_001164277.2(SLC37A4):c.1117G>A (p.Ala373Thr) rs1565686175
NM_001164277.2(SLC37A4):c.1121A>G (p.Asn374Ser)
NM_001164277.2(SLC37A4):c.1124+17A>G
NM_001164277.2(SLC37A4):c.1124+4A>C
NM_001164277.2(SLC37A4):c.1124+5G>A rs2134627689
NM_001164277.2(SLC37A4):c.1124T>C (p.Val375Ala)
NM_001164277.2(SLC37A4):c.1125-15C>G
NM_001164277.2(SLC37A4):c.1125-3C>A
NM_001164277.2(SLC37A4):c.1127G>A (p.Gly376Asp) rs781962569
NM_001164277.2(SLC37A4):c.1170C>T (p.His390=)
NM_001164277.2(SLC37A4):c.1176T>A (p.Ser392Arg) rs782552989
NM_001164277.2(SLC37A4):c.1176T>G (p.Ser392Arg) rs782552989
NM_001164277.2(SLC37A4):c.1201_1218dup (p.Ala406_Ser407insGluValIleCysAlaAla)
NM_001164277.2(SLC37A4):c.1216G>C (p.Ala406Pro)
NM_001164277.2(SLC37A4):c.122A>G (p.Glu41Gly) rs782470624
NM_001164277.2(SLC37A4):c.1231_1232delinsGC (p.Phe411Ala)
NM_001164277.2(SLC37A4):c.1249A>G (p.Ile417Val)
NM_001164277.2(SLC37A4):c.1256C>T (p.Thr419Ile) rs782594411
NM_001164277.2(SLC37A4):c.1258A>G (p.Lys420Glu) rs890913792
NM_001164277.2(SLC37A4):c.1265G>C (p.Gly422Ala) rs2134626279
NM_001164277.2(SLC37A4):c.1271T>A (p.Val424Glu)
NM_001164277.2(SLC37A4):c.1277A>G (p.Lys426Arg)
NM_001164277.2(SLC37A4):c.1279_1280delinsGC (p.Lys427Ala)
NM_001164277.2(SLC37A4):c.127C>T (p.Pro43Ser) rs781846380
NM_001164277.2(SLC37A4):c.1287G>C (p.Glu429Asp) rs1483724786
NM_001164277.2(SLC37A4):c.1287_1290del (p.Ter430GluextTer?) rs1592107594
NM_001164277.2(SLC37A4):c.131T>C (p.Leu44Ser)
NM_001164277.2(SLC37A4):c.137A>G (p.Lys46Arg)
NM_001164277.2(SLC37A4):c.13G>A (p.Gly5Ser) rs571267951
NM_001164277.2(SLC37A4):c.13G>C (p.Gly5Arg) rs571267951
NM_001164277.2(SLC37A4):c.13GGCTAT[3] (p.5GY[3]) rs782663171
NM_001164277.2(SLC37A4):c.148+4A>G rs1943672237
NM_001164277.2(SLC37A4):c.148+6C>T rs1565691594
NM_001164277.2(SLC37A4):c.149-9T>C
NM_001164277.2(SLC37A4):c.149G>A (p.Gly50Glu) rs193302877
NM_001164277.2(SLC37A4):c.149G>T (p.Gly50Val) rs193302877
NM_001164277.2(SLC37A4):c.14G>A (p.Gly5Asp) rs2134644442
NM_001164277.2(SLC37A4):c.154A>C (p.Ile52Leu) rs1565690903
NM_001164277.2(SLC37A4):c.184A>G (p.Ile62Val) rs1555191625
NM_001164277.2(SLC37A4):c.189C>G (p.Ser63Arg) rs1359256648
NM_001164277.2(SLC37A4):c.191A>G (p.Lys64Arg)
NM_001164277.2(SLC37A4):c.217C>G (p.Gln73Glu) rs1555191604
NM_001164277.2(SLC37A4):c.226G>C (p.Ala76Pro) rs948802122
NM_001164277.2(SLC37A4):c.227C>T (p.Ala76Val) rs782429783
NM_001164277.2(SLC37A4):c.229C>A (p.Arg77Ser) rs1417623185
NM_001164277.2(SLC37A4):c.229C>G (p.Arg77Gly)
NM_001164277.2(SLC37A4):c.229C>T (p.Arg77Cys)
NM_001164277.2(SLC37A4):c.230G>A (p.Arg77His) rs370839177
NM_001164277.2(SLC37A4):c.232T>C (p.Trp78Arg)
NM_001164277.2(SLC37A4):c.252G>T (p.Leu84=)
NM_001164277.2(SLC37A4):c.274A>G (p.Ile92Val) rs1280285676
NM_001164277.2(SLC37A4):c.28C>G (p.Arg10Gly) rs546577012
NM_001164277.2(SLC37A4):c.301C>G (p.Pro101Ala)
NM_001164277.2(SLC37A4):c.309T>G (p.Phe103Leu) rs1171686379
NM_001164277.2(SLC37A4):c.31A>C (p.Thr11Pro) rs1399227780
NM_001164277.2(SLC37A4):c.332G>A (p.Gly111Asp) rs1356550790
NM_001164277.2(SLC37A4):c.337G>A (p.Ala113Thr)
NM_001164277.2(SLC37A4):c.347T>C (p.Leu116Pro)
NM_001164277.2(SLC37A4):c.349G>A (p.Gly117Ser)
NM_001164277.2(SLC37A4):c.355C>T (p.Pro119Ser) rs1158229491
NM_001164277.2(SLC37A4):c.356C>G (p.Pro119Arg)
NM_001164277.2(SLC37A4):c.358C>T (p.Pro120Ser) rs1045954164
NM_001164277.2(SLC37A4):c.364G>A (p.Gly122Arg) rs1254956942
NM_001164277.2(SLC37A4):c.369G>T (p.Lys123Asn)
NM_001164277.2(SLC37A4):c.381+5G>A
NM_001164277.2(SLC37A4):c.381G>A (p.Lys127=) rs1315203966
NM_001164277.2(SLC37A4):c.38T>A (p.Ile13Asn)
NM_001164277.2(SLC37A4):c.390G>C (p.Glu130Asp) rs752687782
NM_001164277.2(SLC37A4):c.399G>T (p.Gln133His) rs767772187
NM_001164277.2(SLC37A4):c.412T>C (p.Trp138Arg)
NM_001164277.2(SLC37A4):c.420C>G (p.Ile140Met) rs2134638252
NM_001164277.2(SLC37A4):c.473T>C (p.Ile158Thr)
NM_001164277.2(SLC37A4):c.492C>A (p.Ser164Arg) rs369399624
NM_001164277.2(SLC37A4):c.497GCA[3] (p.Ser167dup) rs2134637839
NM_001164277.2(SLC37A4):c.520G>A (p.Ala174Thr) rs1432294427
NM_001164277.2(SLC37A4):c.523C>G (p.Leu175Val)
NM_001164277.2(SLC37A4):c.53T>C (p.Phe18Ser)
NM_001164277.2(SLC37A4):c.556C>T (p.Leu186Phe) rs538938823
NM_001164277.2(SLC37A4):c.557T>A (p.Leu186His) rs1943614259
NM_001164277.2(SLC37A4):c.560T>C (p.Ile187Thr) rs1452797070
NM_001164277.2(SLC37A4):c.577G>A (p.Asp193Asn)
NM_001164277.2(SLC37A4):c.581T>C (p.Val194Ala)
NM_001164277.2(SLC37A4):c.589C>T (p.Arg197Cys)
NM_001164277.2(SLC37A4):c.58G>T (p.Gly20Cys) rs2134644210
NM_001164277.2(SLC37A4):c.593A>G (p.Asn198Ser)
NM_001164277.2(SLC37A4):c.596T>G (p.Leu199Arg) rs2134637316
NM_001164277.2(SLC37A4):c.598G>T (p.Asp200Tyr)
NM_001164277.2(SLC37A4):c.59G>C (p.Gly20Ala) rs193302881
NM_001164277.2(SLC37A4):c.600C>G (p.Asp200Glu) rs1565689207
NM_001164277.2(SLC37A4):c.606G>A (p.Met202Ile) rs764654621
NM_001164277.2(SLC37A4):c.607C>A (p.Pro203Thr) rs534894133
NM_001164277.2(SLC37A4):c.613G>A (p.Glu205Lys)
NM_001164277.2(SLC37A4):c.615G>C (p.Glu205Asp)
NM_001164277.2(SLC37A4):c.61T>C (p.Tyr21His) rs1943676569
NM_001164277.2(SLC37A4):c.623A>G (p.Lys208Arg)
NM_001164277.2(SLC37A4):c.626+5G>A rs1943610138
NM_001164277.2(SLC37A4):c.626+6C>T rs762685017
NM_001164277.2(SLC37A4):c.634_636del (p.Lys212del) rs782141145
NM_001164277.2(SLC37A4):c.653A>G (p.Gln218Arg) rs782005026
NM_001164277.2(SLC37A4):c.66C>G (p.Ser22Arg)
NM_001164277.2(SLC37A4):c.692C>T (p.Thr231Ile)
NM_001164277.2(SLC37A4):c.711T>G (p.Phe237Leu) rs1295327218
NM_001164277.2(SLC37A4):c.724T>G (p.Cys242Gly)
NM_001164277.2(SLC37A4):c.728G>A (p.Cys243Tyr) rs1555191076
NM_001164277.2(SLC37A4):c.740G>A (p.Gly247Asp) rs1345697523
NM_001164277.2(SLC37A4):c.743A>G (p.Gln248Arg)
NM_001164277.2(SLC37A4):c.744G>T (p.Gln248His)
NM_001164277.2(SLC37A4):c.751C>G (p.Leu251Val) rs2134634814
NM_001164277.2(SLC37A4):c.770A>G (p.Gln257Arg)
NM_001164277.2(SLC37A4):c.780_781insTCTTACCTT (p.Leu260_Val261insSerTyrLeu) rs1565688245
NM_001164277.2(SLC37A4):c.785G>C (p.Gly262Ala) rs782692832
NM_001164277.2(SLC37A4):c.793T>C (p.Tyr265His)
NM_001164277.2(SLC37A4):c.796A>G (p.Met266Val)
NM_001164277.2(SLC37A4):c.824T>G (p.Val275Gly) rs2134633732
NM_001164277.2(SLC37A4):c.827G>C (p.Gly276Ala) rs1350014866
NM_001164277.2(SLC37A4):c.83G>T (p.Arg28Leu)
NM_001164277.2(SLC37A4):c.85A>G (p.Lys29Glu) rs1943675245
NM_001164277.2(SLC37A4):c.872C>G (p.Ala291Gly) rs200147602
NM_001164277.2(SLC37A4):c.87G>T (p.Lys29Asn)
NM_001164277.2(SLC37A4):c.886_888delinsCAA (p.Tyr296Gln) rs1943560243
NM_001164277.2(SLC37A4):c.894C>A (p.Asn298Lys)
NM_001164277.2(SLC37A4):c.89C>T (p.Thr30Ile)
NM_001164277.2(SLC37A4):c.901C>G (p.His301Asp) rs539911116
NM_001164277.2(SLC37A4):c.901C>T (p.His301Tyr)
NM_001164277.2(SLC37A4):c.919A>G (p.Met307Val)
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup) rs786204477
NM_001164277.2(SLC37A4):c.928G>A (p.Gly310Ser)
NM_001164277.2(SLC37A4):c.92_94del (p.Phe31del) rs1432360280
NM_001164277.2(SLC37A4):c.944T>G (p.Met315Arg)
NM_001164277.2(SLC37A4):c.949C>G (p.Leu317Val)
NM_001164277.2(SLC37A4):c.956G>C (p.Arg319Pro) rs782703235
NM_001164277.2(SLC37A4):c.956G>T (p.Arg319Leu)
NM_001164277.2(SLC37A4):c.961A>T (p.Thr321Ser)
NM_001164277.2(SLC37A4):c.977C>A (p.Ser326Tyr) rs1943553852
NM_001164277.2(SLC37A4):c.979C>T (p.Pro327Ser)
NM_001164277.2(SLC37A4):c.984G>A (p.Lys328=)

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