ClinVar Miner

List of variants reported as uncertain significance for carbohydrate metabolism disease by Clinical Biochemistry Laboratory,Health Services Laboratory

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 79
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HGVS dbSNP
NM_000030.3(AGXT):c.*19G>A rs143458283
NM_000030.3(AGXT):c.*289A>C rs4344931
NM_000030.3(AGXT):c.*41C>A rs4273214
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527
NM_000030.3(AGXT):c.1072-91G>A rs180177159
NM_000030.3(AGXT):c.1142G>A (p.Arg381Lys) rs151185188
NM_000030.3(AGXT):c.1174C>T (p.Leu392=) rs180177167
NM_000030.3(AGXT):c.165+16A>G rs66494441
NM_000030.3(AGXT):c.165+19_166-48dup rs180177174
NM_000030.3(AGXT):c.165+40A>C rs57017537
NM_000030.3(AGXT):c.165+44T>A rs58120546
NM_000030.3(AGXT):c.166-14C>T rs180177176
NM_000030.3(AGXT):c.166-47T>C rs180177178
NM_000030.3(AGXT):c.166-54C>T rs180177179
NM_000030.3(AGXT):c.166-56C>T rs114401766
NM_000030.3(AGXT):c.166-57C>T rs180177175
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.27C>A (p.Thr9=) rs180177188
NM_000030.3(AGXT):c.296C>A (p.Ser99Tyr) rs180177192
NM_000030.3(AGXT):c.32C>A (p.Pro11His) rs34116584
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.3(AGXT):c.358+13C>T rs34995778
NM_000030.3(AGXT):c.358+56_358+64del rs180177209
NM_000030.3(AGXT):c.35A>G (p.Lys12Arg) rs142969817
NM_000030.3(AGXT):c.385G>C (p.Asp129His) rs180177212
NM_000030.3(AGXT):c.423+29C>T rs117043148
NM_000030.3(AGXT):c.423+36A>C rs180177216
NM_000030.3(AGXT):c.423+45T>G rs117357855
NM_000030.3(AGXT):c.424-12dup rs398122323
NM_000030.3(AGXT):c.424-16G>A rs74895925
NM_000030.3(AGXT):c.489G>A (p.Leu163=) rs147601535
NM_000030.3(AGXT):c.524+91C>T rs10196315
NM_000030.3(AGXT):c.557C>T (p.Ala186Val) rs117195882
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln) rs34664134
NM_000030.3(AGXT):c.654G>A (p.Ser218=) rs33958047
NM_000030.3(AGXT):c.65A>G (p.Asn22Ser) rs34885252
NM_000030.3(AGXT):c.680+130C>T rs78178548
NM_000030.3(AGXT):c.680+17C>T rs11693280
NM_000030.3(AGXT):c.680+75G>A rs117619103
NM_000030.3(AGXT):c.681-94G>A rs141154272
NM_000030.3(AGXT):c.705G>A (p.Thr235=) rs35977912
NM_000030.3(AGXT):c.742G>T (p.Ala248Ser) rs180177260
NM_000030.3(AGXT):c.777-44A>G rs12464426
NM_000030.3(AGXT):c.777-45C>T rs12478859
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177
NM_000030.3(AGXT):c.837T>G (p.Ile279Met) rs180177277
NM_000030.3(AGXT):c.839C>T (p.Ala280Val) rs73106685
NM_000030.3(AGXT):c.845A>G (p.Gln282Arg) rs180177280
NM_000030.3(AGXT):c.846+52G>A rs12695032
NM_000030.3(AGXT):c.865C>T (p.Arg289Cys) rs180177290
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961
NM_000030.3(AGXT):c.943-117C>T rs10199038
NM_000030.3(AGXT):c.976G>A (p.Val326Ile) rs115057148
NM_012203.1(GRHPR):c.866-25CT[9] rs34302950
NM_012203.2(GRHPR):c.215-11C>T rs796052076
NM_012203.2(GRHPR):c.288-11C>T rs2736664
NM_012203.2(GRHPR):c.493+27C>T rs146896070
NM_012203.2(GRHPR):c.494-68A>G rs309459
NM_012203.2(GRHPR):c.579= (p.Ala193=) rs309458
NM_012203.2(GRHPR):c.579A>G (p.Ala193=) rs309458
NM_012203.2(GRHPR):c.598+145G>T rs72739643
NM_012203.2(GRHPR):c.734+9G>A rs56401536
NM_012203.2(GRHPR):c.740A>G (p.Asp247Gly) rs180177318
NM_012203.2(GRHPR):c.83+52del rs35891798
NM_012203.2(GRHPR):c.871C>T (p.Leu291=) rs1135283
NM_012203.2(GRHPR):c.963G>A (p.Pro321=) rs76299266
NM_138413.4(HOGA1):c.212-21A>G rs11817730
NM_138413.4(HOGA1):c.341-82del rs796052083
NM_138413.4(HOGA1):c.396G>A (p.Ala132=) rs41290456
NM_138413.4(HOGA1):c.469-13C>T rs750664684
NM_138413.4(HOGA1):c.469-25C>T rs7078003
NM_138413.4(HOGA1):c.469-31C>T rs75929214
NM_138413.4(HOGA1):c.700+67G>A rs2297643
NM_138413.4(HOGA1):c.701-18G>C rs201596675
NM_138413.4(HOGA1):c.745C>G (p.Gln249Glu) rs368276974
NM_138413.4(HOGA1):c.834+42G>T rs115279832
NM_138413.4(HOGA1):c.912C>A (p.Ala304=) rs12261752
Single allele

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