ClinVar Miner

List of variants reported as likely 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: 161
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HGVS dbSNP
NM_000027.4(AGA):c.303A>T (p.Ala101=) rs142449515
NM_000027.4(AGA):c.623-7C>T rs201125635
NM_000027.4(AGA):c.762C>T (p.Ala254=) rs145465919
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys) rs369664123
NM_000030.3(AGXT):c.27C>A (p.Thr9=) rs180177188
NM_000030.3(AGXT):c.35A>G (p.Lys12Arg) rs142969817
NM_000030.3(AGXT):c.489G>A (p.Leu163=) rs147601535
NM_000030.3(AGXT):c.840G>A (p.Ala280=) rs143295006
NM_000030.3(AGXT):c.885G>A (p.Ala295=) rs377132245
NM_000035.4(ALDOB):c.525C>T (p.Ala175=) rs144196914
NM_000035.4(ALDOB):c.906T>C (p.Tyr302=) rs138866018
NM_000046.5(ARSB):c.1500C>T (p.Ser500=) rs762978908
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888
NM_000046.5(ARSB):c.54G>A (p.Leu18=) rs142781021
NM_000046.5(ARSB):c.570A>G (p.Thr190=) rs148138805
NM_000046.5(ARSB):c.82C>T (p.Leu28=) rs138587718
NM_000108.5(DLD):c.1452T>C (p.Cys484=) rs760982359
NM_000108.5(DLD):c.375G>A (p.Glu125=) rs559057715
NM_000108.5(DLD):c.508G>A (p.Gly170Ser)
NM_000108.5(DLD):c.519T>G (p.Val173=) rs148559280
NM_000108.5(DLD):c.55C>G (p.Arg19Gly) rs144038427
NM_000108.5(DLD):c.583-3C>T rs186031819
NM_000108.5(DLD):c.763A>C (p.Met255Leu) rs533405046
NM_000108.5(DLD):c.876-6A>T rs199944006
NM_000151.4(G6PC1):c.340+10C>A rs368450665
NM_000151.4(G6PC1):c.615C>T (p.Ser205=) rs374522795
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile) rs145172999
NM_000151.4(G6PC1):c.960G>T (p.Leu320=) rs531727073
NM_000152.5(GAA):c.1053G>A (p.Val351=) rs773063199
NM_000152.5(GAA):c.1416C>T (p.Thr472=) rs368492669
NM_000152.5(GAA):c.1438-9G>A rs202211401
NM_000152.5(GAA):c.1482A>G (p.Thr494=) rs202064115
NM_000152.5(GAA):c.1818C>T (p.His606=) rs374368644
NM_000152.5(GAA):c.2052G>A (p.Pro684=) rs546463058
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311
NM_000152.5(GAA):c.2215A>T (p.Thr739Ser) rs578245757
NM_000152.5(GAA):c.2319C>T (p.Tyr773=) rs377402848
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) rs149968110
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536
NM_000152.5(GAA):c.858+17_858+23del rs1555599723
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359
NM_000154.2(GALK1):c.1044C>T (p.Phe348=) rs372653001
NM_000154.2(GALK1):c.291C>G (p.Arg97=) rs368542855
NM_000154.2(GALK1):c.363C>A (p.Pro121=) rs779234943
NM_000154.2(GALK1):c.432C>T (p.Ser144=) rs150323432
NM_000154.2(GALK1):c.447G>A (p.Thr149=) rs765744088
NM_000154.2(GALK1):c.611+9C>T rs370204015
NM_000154.2(GALK1):c.746C>T (p.Ala249Val) rs149825190
NM_000154.2(GALK1):c.747G>A (p.Ala249=) rs140053358
NM_000154.2(GALK1):c.857G>A (p.Arg286Gln) rs145641205
NM_000154.2(GALK1):c.948C>T (p.Asp316=) rs370706611
NM_000155.4(GALT):c.1128A>T (p.Ala376=) rs781374930
NM_000155.4(GALT):c.414G>A (p.Thr138=) rs116479817
NM_000158.4(GBE1):c.1389G>A (p.Thr463=) rs757933285
NM_000158.4(GBE1):c.1392C>T (p.Leu464=) rs563241317
NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys) rs760661724
NM_000158.4(GBE1):c.1521T>C (p.Thr507=) rs372821643
NM_000158.4(GBE1):c.1713C>T (p.Asp571=) rs373148836
NM_000158.4(GBE1):c.1722T>C (p.Leu574=) rs367905308
NM_000158.4(GBE1):c.1995C>T (p.His665=) rs201515305
NM_000158.4(GBE1):c.350T>C (p.Leu117Pro) rs186942296
NM_000158.4(GBE1):c.969T>C (p.Asp323=) rs555689284
NM_000199.5(SGSH):c.117G>A (p.Ala39=) rs201132655
NM_000199.5(SGSH):c.1323G>C (p.Arg441=) rs202209795
NM_000199.5(SGSH):c.1428C>T (p.His476=) rs139460639
NM_000199.5(SGSH):c.1446C>T (p.Ala482=) rs113679696
NM_000199.5(SGSH):c.282C>T (p.Asp94=) rs748857638
NM_000199.5(SGSH):c.324G>A (p.Pro108=) rs147938702
NM_000199.5(SGSH):c.390C>T (p.Thr130=) rs111761143
NM_000199.5(SGSH):c.432C>T (p.Ser144=) rs200194908
NM_000199.5(SGSH):c.641C>A (p.Ala214Asp) rs74000629
NM_000199.5(SGSH):c.798A>G (p.Thr266=) rs199562202
NM_000199.5(SGSH):c.936C>T (p.Tyr312=) rs147716878
NM_000202.8(IDS):c.1006+8T>C rs782781942
NM_000202.8(IDS):c.1284C>T (p.His428=) rs782163574
NM_000202.8(IDS):c.1372C>T (p.Arg458Cys) rs782340858
NM_000202.8(IDS):c.162T>C (p.Tyr54=) rs141088021
NM_000202.8(IDS):c.237G>A (p.Ala79=) rs782183418
NM_000202.8(IDS):c.23G>T (p.Arg8Leu) rs782621858
NM_000202.8(IDS):c.450G>A (p.Pro150=) rs201892132
NM_000202.8(IDS):c.507+6G>T rs370769925
NM_000202.8(IDS):c.696C>T (p.Phe232=) rs782498858
NM_000202.8(IDS):c.933C>T (p.Val311=)
NM_000202.8(IDS):c.97A>T (p.Thr33Ser) rs782158763
NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly) rs202191662
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro) rs180984980
NM_000203.5(IDUA):c.1224C>T (p.Ala408=) rs774488302
NM_000203.5(IDUA):c.1800G>A (p.Ser600=) rs763047621
NM_000203.5(IDUA):c.1856G>A (p.Arg619Gln) rs372137794
NM_000203.5(IDUA):c.590-8C>G rs6848974
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys) rs546933529
NM_000203.5(IDUA):c.793-9C>T rs375798875
NM_000263.4(NAGLU):c.1119G>T (p.Val373=) rs371656965
NM_000263.4(NAGLU):c.1346G>A (p.Ser449Asn) rs114605439
NM_000263.4(NAGLU):c.1617C>T (p.Ala539=) rs149875730
NM_000263.4(NAGLU):c.1821C>T (p.Asp607=) rs750401625
NM_000263.4(NAGLU):c.1899C>T (p.Ala633=) rs767268083
NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn) rs199879809
NM_000284.4(PDHA1):c.1172_*3del (p.Ser390_Ter391insTer) rs1555935577
NM_000289.6(PFKM):c.1063-6C>G rs371033104
NM_000289.6(PFKM):c.1192-5T>C rs778432092
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737
NM_000289.6(PFKM):c.459C>T (p.Ser153=) rs145519821
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=) rs112829030
NM_000528.4(MAN2B1):c.2409C>T (p.Ser803=) rs147850230
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=) rs148945108
NM_000528.4(MAN2B1):c.789G>A (p.Pro263=) rs149484019
NM_000528.4(MAN2B1):c.874C>T (p.Leu292=) rs141077530
NM_000528.4(MAN2B1):c.966T>C (p.Tyr322=) rs762918325
NM_000642.3(AGL):c.1759C>T (p.His587Tyr) rs139488862
NM_000642.3(AGL):c.1885G>A (p.Glu629Lys) rs146041189
NM_000642.3(AGL):c.1908A>G (p.Ser636=) rs144723143
NM_000642.3(AGL):c.3231G>A (p.Lys1077=) rs138063386
NM_000642.3(AGL):c.3345A>T (p.Gly1115=) rs758265909
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn) rs2230308
NM_000642.3(AGL):c.4575T>A (p.Ile1525=) rs372116308
NM_000925.4(PDHB):c.417T>C (p.Pro139=) rs762644804
NM_001164277.1(SLC37A4):c.1128C>T (p.Gly376=) rs200713586
NM_001164277.1(SLC37A4):c.467C>T (p.Ala156Val) rs201036248
NM_001164277.1(SLC37A4):c.628T>C (p.Ser210Pro) rs201101662
NM_001164277.1(SLC37A4):c.663G>A (p.Leu221=) rs150083315
NM_001164277.1(SLC37A4):c.785+6A>T rs369358436
NM_001352514.2(HLCS):c.1875G>A (p.Thr625=) rs776800808
NM_001352514.2(HLCS):c.2505C>A (p.Gly835=) rs199936080
NM_001352514.2(HLCS):c.609C>T (p.Asp203=) rs370118884
NM_001352514.2(HLCS):c.696T>C (p.Pro232=) rs200877859
NM_001352514.2(HLCS):c.951C>T (p.Ser317=) rs185480832
NM_001370658.1(BTD):c.1188C>T (p.His396=)
NM_001370658.1(BTD):c.201C>T (p.Asn67=) rs147057169
NM_001370658.1(BTD):c.339G>A (p.Pro113=) rs181743799
NM_002076.4(GNS):c.4C>T (p.Arg2Trp) rs200441930
NM_005609.4(PYGM):c.1870G>A (p.Val624Ile) rs143217651
NM_005609.4(PYGM):c.1926T>C (p.Arg642=) rs779048512
NM_005609.4(PYGM):c.2177+7G>A rs201366697
NM_005609.4(PYGM):c.330C>T (p.Asp110=) rs114742918
NM_005609.4(PYGM):c.558C>T (p.Tyr186=) rs144298015
NM_005609.4(PYGM):c.606C>T (p.His202=) rs79860859
NM_005609.4(PYGM):c.723C>T (p.Thr241=) rs772848708
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) rs114468011
NM_012203.2(GRHPR):c.252C>A (p.Gly84=)
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys) rs78920863
NM_012203.2(GRHPR):c.336C>T (p.Ala112=) rs148778319
NM_012203.2(GRHPR):c.391G>A (p.Glu131Lys)
NM_012203.2(GRHPR):c.468C>T (p.Val156=) rs142509393
NM_012203.2(GRHPR):c.578C>T (p.Ala193Val)
NM_012203.2(GRHPR):c.666C>G (p.Thr222=) rs146227450
NM_012203.2(GRHPR):c.666C>T (p.Thr222=) rs146227450
NM_012203.2(GRHPR):c.84-4G>A rs778578725
NM_012203.2(GRHPR):c.963G>A (p.Pro321=) rs76299266
NM_033159.4(HYAL1):c.588C>T (p.Arg196=) rs782601965
NM_033159.4(HYAL1):c.600C>A (p.Gly200=) rs374928005
NM_138413.4(HOGA1):c.185A>T (p.His62Leu) rs150812556
NM_138413.4(HOGA1):c.237C>T (p.Gly79=) rs148094180
NM_138413.4(HOGA1):c.594C>T (p.Ser198=) rs374733151
NM_152419.3(HGSNAT):c.1023C>T (p.Asp341=) rs772729729
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=) rs886062952
NM_152419.3(HGSNAT):c.1623G>A (p.Ser541=) rs372909374
NM_152419.3(HGSNAT):c.285G>A (p.Lys95=) rs752466254
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=) rs184883937
NM_152419.3(HGSNAT):c.828A>G (p.Thr276=) rs182393180

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