ClinVar Miner

List of variants reported as benign for carbohydrate metabolism disease by Natera, Inc.

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 196
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HGVS dbSNP
NM_000027.4(AGA):c.1023A>G (p.Glu341=) rs113407270
NM_000027.4(AGA):c.446C>G (p.Thr149Ser) rs2228119
NM_000027.4(AGA):c.60A>G (p.Leu20=) rs114918706
NM_000027.4(AGA):c.623-10del rs745896951
NM_000030.3(AGXT):c.1023C>A (p.Asp341Glu) rs144007007
NM_000030.3(AGXT):c.264C>T (p.Ala88=) rs35698882
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.3(AGXT):c.537G>C (p.Leu179=) rs565927450
NM_000030.3(AGXT):c.654G>A (p.Ser218=) rs33958047
NM_000030.3(AGXT):c.705G>A (p.Thr235=) rs35977912
NM_000030.3(AGXT):c.839C>T (p.Ala280Val) rs73106685
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961
NM_000035.4(ALDOB):c.-1C>T rs560091436
NM_000035.4(ALDOB):c.324+8C>G rs118168553
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys) rs35885472
NM_000035.4(ALDOB):c.619G>C (p.Glu207Gln) rs3739721
NM_000046.5(ARSB):c.1068A>T (p.Thr356=) rs16876029
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del) rs550086186
NM_000046.5(ARSB):c.1362G>A (p.Pro454=) rs35757003
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser) rs144222167
NM_000046.5(ARSB):c.1446A>G (p.Glu482=) rs35714924
NM_000108.5(DLD):c.1351C>T (p.Leu451=) rs1803921
NM_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495
NM_000108.5(DLD):c.249T>C (p.Val83=) rs2228664
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000108.5(DLD):c.675T>C (p.Gly225=) rs73726765
NM_000108.5(DLD):c.684+7G>A rs75123588
NM_000108.5(DLD):c.777A>G (p.Lys259=) rs1065762
NM_000108.5(DLD):c.826A>T (p.Thr276Ser) rs148873419
NM_000151.4(G6PC1):c.132C>T (p.Tyr44=) rs202190197
NM_000151.4(G6PC1):c.992C>T (p.Ala331Val) rs149486847
NM_000152.5(GAA):c.2040+20A>G rs2304836
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300
NM_000152.5(GAA):c.642C>T (p.Ser214=) rs1800301
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC rs3071247
NM_000154.2(GALK1):c.1107+5G>A rs201663491
NM_000154.2(GALK1):c.189G>A (p.Leu63=) rs7211385
NM_000154.2(GALK1):c.840C>T (p.His280=) rs375779311
NM_000154.2(GALK1):c.987G>A (p.Val329=) rs184160171
NM_000155.4(GALT):c.378-27G>C rs41274865
NM_000155.4(GALT):c.507+62G>A rs2277202
NM_000155.4(GALT):c.508-17G>A rs12000481
NM_000155.4(GALT):c.508-24G>A rs41274867
NM_000155.4(GALT):c.510C>A (p.Ile170=) rs61735984
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg) rs36099971
NM_000158.4(GBE1):c.143+10G>T rs9820490
NM_000158.4(GBE1):c.1519A>G (p.Thr507Ala) rs2228389
NM_000158.4(GBE1):c.1716C>T (p.Asp572=) rs2229520
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys) rs202158511
NM_000158.4(GBE1):c.342C>T (p.Tyr114=) rs13320194
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly) rs2229519
NM_000158.4(GBE1):c.579G>A (p.Lys193=) rs17019144
NM_000158.4(GBE1):c.640G>A (p.Ala214Thr) rs201166587
NM_000158.4(GBE1):c.859G>C (p.Val287Leu) rs116899644
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254
NM_000199.5(SGSH):c.1116G>A (p.Met372Ile) rs58786455
NM_000199.5(SGSH):c.1283G>A (p.Arg428His) rs144862290
NM_000199.5(SGSH):c.1367G>A (p.Arg456His) rs7503034
NM_000199.5(SGSH):c.163C>T (p.Arg55Cys) rs368650877
NM_000199.5(SGSH):c.411G>A (p.Ala137=) rs142557761
NM_000199.5(SGSH):c.522C>T (p.Tyr174=) rs147064455
NM_000199.5(SGSH):c.675C>T (p.Phe225=) rs34520362
NM_000199.5(SGSH):c.701C>G (p.Ala234Gly) rs113641837
NM_000202.8(IDS):c.1269C>T (p.Pro423=) rs61736890
NM_000202.8(IDS):c.438C>T (p.Thr146=) rs1141608
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892
NM_000203.5(IDUA):c.1190-10dup rs150523349
NM_000203.5(IDUA):c.1525-38T>C rs1131853
NM_000203.5(IDUA):c.667G>A (p.Asp223Asn) rs183347428
NM_000203.5(IDUA):c.709C>T (p.Leu237Phe) rs74385837
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577
NM_000263.4(NAGLU):c.1557G>A (p.Arg519=) rs150905331
NM_000263.4(NAGLU):c.1563G>A (p.Pro521=) rs61737297
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=) rs115166595
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=) rs151013014
NM_000263.4(NAGLU):c.1983G>A (p.Lys661=) rs181021573
NM_000263.4(NAGLU):c.2209C>G (p.Arg737Gly) rs86312
NM_000263.4(NAGLU):c.421T>A (p.Ser141Thr) rs61737294
NM_000263.4(NAGLU):c.423T>C (p.Ser141=) rs659497
NM_000263.4(NAGLU):c.675G>T (p.Leu225=) rs115680529
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507
NM_000289.6(PFKM):c.468G>C (p.Leu156=)
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=) rs117880912
NM_000528.4(MAN2B1):c.1441G>T (p.Ala481Ser) rs34544747
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys) rs145062583
NM_000528.4(MAN2B1):c.1850A>G (p.Asp617Gly) rs370382032
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys) rs141212446
NM_000528.4(MAN2B1):c.2267+3G>C rs28639634
NM_000528.4(MAN2B1):c.2267+3dup rs572289342
NM_000528.4(MAN2B1):c.2404A>G (p.Ser802Gly) rs141391488
NM_000528.4(MAN2B1):c.264C>A (p.Ile88=) rs199592101
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=) rs148108322
NM_000528.4(MAN2B1):c.2884C>T (p.Arg962Cys) rs370276057
NM_000528.4(MAN2B1):c.2993G>A (p.Arg998His) rs202174515
NM_000528.4(MAN2B1):c.594C>T (p.Phe198=) rs371341958
NM_000528.4(MAN2B1):c.719G>A (p.Arg240Gln) rs11554970
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu) rs117843968
NM_000528.4(MAN2B1):c.747C>T (p.Thr249=) rs61737536
NM_000528.4(MAN2B1):c.748G>T (p.Ala250Ser) rs3745650
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
NM_000642.3(AGL):c.-10A>G rs2307130
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) rs35278779
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701
NM_000642.3(AGL):c.1160G>A (p.Arg387Gln) rs17121464
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166
NM_000642.3(AGL):c.2001+8T>C rs3736296
NM_000642.3(AGL):c.207T>C (p.Asn69=) rs2230305
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe) rs150441555
NM_000642.3(AGL):c.2802A>C (p.Ala934=) rs34230588
NM_000642.3(AGL):c.2885C>G (p.Ser962Cys) rs34714252
NM_000642.3(AGL):c.3199C>T (p.Pro1067Ser) rs3753494
NM_000642.3(AGL):c.3343G>A (p.Gly1115Arg) rs2230307
NM_000642.3(AGL):c.3758G>A (p.Arg1253His) rs12043139
NM_000642.3(AGL):c.3849T>C (p.Ala1283=) rs28730706
NM_000642.3(AGL):c.686A>G (p.Gln229Arg) rs17121403
NM_000642.3(AGL):c.894C>T (p.Leu298=) rs2230306
NM_000925.4(PDHB):c.132T>C (p.Asp44=) rs11542399
NM_001164277.1(SLC37A4):c.1062C>T (p.Asn354=) rs61730035
NM_001164277.1(SLC37A4):c.1224G>A (p.Thr408=) rs8192696
NM_001164277.1(SLC37A4):c.1278G>A (p.Lys426=) rs34871377
NM_001164277.1(SLC37A4):c.183T>C (p.Ala61=) rs34123220
NM_001164277.1(SLC37A4):c.497G>A (p.Arg166His) rs186476316
NM_001164277.1(SLC37A4):c.593A>T (p.Asn198Ile) rs34203644
NM_001164277.1(SLC37A4):c.991A>G (p.Ile331Val) rs201967384
NM_001352514.2(HLCS):c.*7_*9del rs201681436
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln) rs146030669
NM_001352514.2(HLCS):c.1412G>A (p.Arg471His) rs61732501
NM_001352514.2(HLCS):c.1494C>T (p.Asn498=) rs1065759
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_001352514.2(HLCS):c.2361C>T (p.Val787=) rs61732507
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp) rs61732504
NM_001352514.2(HLCS):c.726C>T (p.Pro242=) rs2230182
NM_001352514.2(HLCS):c.727G>A (p.Val243Ile) rs61732502
NM_001352514.2(HLCS):c.900G>A (p.Arg300=) rs146019354
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250
NM_001370658.1(BTD):c.1353T>C (p.Cys451=) rs3817641
NM_001370658.1(BTD):c.142A>G (p.Ile48Val) rs114092911
NM_001370658.1(BTD):c.585C>T (p.Leu195=) rs145388314
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361
NM_002076.4(GNS):c.1113C>T (p.Asn371=) rs116798538
NM_002076.4(GNS):c.1598G>A (p.Arg533His) rs61743822
NM_002076.4(GNS):c.198G>A (p.Pro66=) rs1147096
NM_002076.4(GNS):c.21C>G (p.Ala7=) rs61743823
NM_002076.4(GNS):c.363G>A (p.Lys121=) rs2230291
NM_005609.4(PYGM):c.1092+6dup rs368602234
NM_005609.4(PYGM):c.1184C>T (p.Thr395Met) rs71581787
NM_005609.4(PYGM):c.1240C>G (p.Arg414Gly) rs11231866
NM_005609.4(PYGM):c.1339A>C (p.Ile447Leu) rs568496266
NM_005609.4(PYGM):c.1494C>T (p.Pro498=) rs11231865
NM_005609.4(PYGM):c.1527G>T (p.Gly509=) rs114730784
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786
NM_005609.4(PYGM):c.1569C>G (p.Leu523=) rs114138772
NM_005609.4(PYGM):c.182G>A (p.Arg61His) rs145514333
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) rs61736659
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) rs113806080
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp) rs190548494
NM_005609.4(PYGM):c.661-5C>G rs75633423
NM_012203.2(GRHPR):c.16C>T (p.Leu6Phe) rs147185003
NM_012203.2(GRHPR):c.34A>G (p.Thr12Ala)
NM_012203.2(GRHPR):c.357A>G (p.Leu119=) rs186922220
NM_012203.2(GRHPR):c.493+9C>T rs41303225
NM_012203.2(GRHPR):c.509G>A (p.Arg170Gln) rs12002324
NM_012203.2(GRHPR):c.579A>G (p.Ala193=) rs309458
NM_012203.2(GRHPR):c.801A>C (p.Gly267=) rs141800325
NM_012203.2(GRHPR):c.962C>T (p.Pro321Leu) rs142356700
NM_033159.4(HYAL1):c.1175C>T (p.Thr392Met) rs117179004
NM_033159.4(HYAL1):c.1277C>G (p.Ala426Gly) rs142342237
NM_033159.4(HYAL1):c.270G>C (p.Glu90Asp) rs74342080
NM_033159.4(HYAL1):c.323G>A (p.Arg108His) rs56962018
NM_033159.4(HYAL1):c.384C>T (p.Ile128=) rs116097974
NM_033159.4(HYAL1):c.419A>G (p.Asn140Ser) rs587637619
NM_052845.4(MMAB):c.716T>A (p.Met239Lys) rs9593
NM_138413.4(HOGA1):c.700+7C>T rs57616820
NM_138413.4(HOGA1):c.777G>A (p.Thr259=) rs34820265
NM_138413.4(HOGA1):c.912C>A (p.Ala304=) rs12261752
NM_152419.3(HGSNAT):c.1250+7G>A rs74795999
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln) rs73569592
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988
NM_152419.3(HGSNAT):c.1727-9C>G rs76750342
NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=) rs1126058
NM_152419.3(HGSNAT):c.1840G>A (p.Val614Ile) rs73675469
NM_152419.3(HGSNAT):c.689C>T (p.Thr230Met) rs200416815

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