ClinVar Miner

List of variants in gene NNT reported as uncertain significance for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 66
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_182977.3(NNT):c.3058C>G (p.Pro1020Ala) rs147457922 0.00046
NM_182977.3(NNT):c.3112-3C>T rs201769324 0.00044
NM_182977.3(NNT):c.1424C>T (p.Thr475Met) rs141791856 0.00038
NM_182977.3(NNT):c.1264G>A (p.Val422Ile) rs137922441 0.00017
NM_182977.3(NNT):c.2777G>A (p.Ser926Asn) rs138051357 0.00016
NM_182977.3(NNT):c.3072T>G (p.Ile1024Met) rs776016665 0.00015
NM_182977.3(NNT):c.1546G>A (p.Val516Ile) rs367558397 0.00013
NM_182977.3(NNT):c.1345C>G (p.Pro449Ala) rs777489818 0.00012
NM_182977.3(NNT):c.1982C>T (p.Ala661Val) rs374759680 0.00006
NM_182977.3(NNT):c.2635-6T>C rs747389406 0.00006
NM_182977.3(NNT):c.2390T>A (p.Val797Glu) rs748651246 0.00005
NM_182977.3(NNT):c.2533G>A (p.Ala845Thr) rs779088322 0.00005
NM_182977.3(NNT):c.3233C>T (p.Ala1078Val) rs145466859 0.00005
NM_182977.3(NNT):c.1358A>C (p.Lys453Thr) rs369205710 0.00004
NM_182977.3(NNT):c.1315C>T (p.Pro439Ser) rs1422660107 0.00003
NM_182977.3(NNT):c.1383A>C (p.Glu461Asp) rs201999370 0.00003
NM_182977.3(NNT):c.1760G>A (p.Arg587His) rs759070764 0.00003
NM_182977.3(NNT):c.2876+5G>A rs753362024 0.00003
NM_182977.3(NNT):c.697G>A (p.Val233Ile) rs761727766 0.00003
NM_182977.3(NNT):c.96T>G (p.Phe32Leu) rs369414412 0.00003
NM_182977.3(NNT):c.790G>A (p.Glu264Lys) rs147924268 0.00002
NM_182977.3(NNT):c.1484A>G (p.Asn495Ser) rs199609080 0.00001
NM_182977.3(NNT):c.149C>T (p.Pro50Leu) rs758042917 0.00001
NM_182977.3(NNT):c.1717+4T>C rs373605069 0.00001
NM_182977.3(NNT):c.2203G>A (p.Ala735Thr) rs1649750512 0.00001
NM_182977.3(NNT):c.2345C>T (p.Ala782Val) rs775927166 0.00001
NM_182977.3(NNT):c.2404A>G (p.Thr802Ala) rs367728055 0.00001
NM_182977.3(NNT):c.2491A>G (p.Met831Val) rs763759518 0.00001
NM_182977.3(NNT):c.250A>G (p.Lys84Glu) rs748190176 0.00001
NM_182977.3(NNT):c.2744A>G (p.Asp915Gly) rs1283904112 0.00001
NM_182977.3(NNT):c.2778C>A (p.Ser926Arg) rs1451092520 0.00001
NM_182977.3(NNT):c.3221A>T (p.Asp1074Val) rs1291308955 0.00001
NM_182977.3(NNT):c.349A>G (p.Lys117Glu) rs777968362 0.00001
NM_182977.3(NNT):c.38C>T (p.Ser13Leu) rs759723802 0.00001
NM_182977.3(NNT):c.391C>T (p.Pro131Ser) rs928986084 0.00001
NM_182977.3(NNT):c.553A>G (p.Ile185Val) rs1186807396 0.00001
NM_182977.3(NNT):c.816G>C (p.Glu272Asp) rs764529261 0.00001
NM_182977.3(NNT):c.1258G>T (p.Gly420Cys) rs866759064
NM_182977.3(NNT):c.1370A>T (p.Glu457Val)
NM_182977.3(NNT):c.1555G>A (p.Val519Met) rs2478533664
NM_182977.3(NNT):c.1630G>A (p.Ala544Thr) rs751998630
NM_182977.3(NNT):c.1663A>G (p.Thr555Ala)
NM_182977.3(NNT):c.1682C>T (p.Ala561Val)
NM_182977.3(NNT):c.1834G>A (p.Ala612Thr) rs2478556235
NM_182977.3(NNT):c.1840T>C (p.Tyr614His)
NM_182977.3(NNT):c.1864A>G (p.Ile622Val)
NM_182977.3(NNT):c.2075A>C (p.Lys692Thr)
NM_182977.3(NNT):c.2273T>C (p.Ile758Thr)
NM_182977.3(NNT):c.2467A>G (p.Thr823Ala)
NM_182977.3(NNT):c.2734A>G (p.Ile912Val)
NM_182977.3(NNT):c.2860C>G (p.Gln954Glu) rs1488503249
NM_182977.3(NNT):c.3004T>G (p.Leu1002Val)
NM_182977.3(NNT):c.307G>A (p.Asp103Asn) rs2478289412
NM_182977.3(NNT):c.31G>T (p.Gly11Cys)
NM_182977.3(NNT):c.3247T>C (p.Ser1083Pro) rs1743011355
NM_182977.3(NNT):c.32G>T (p.Gly11Val)
NM_182977.3(NNT):c.449C>T (p.Thr150Met) rs775681133
NM_182977.3(NNT):c.455T>C (p.Ile152Thr) rs2478311574
NM_182977.3(NNT):c.566A>G (p.Tyr189Cys) rs780548392
NM_182977.3(NNT):c.620C>A (p.Ala207Glu)
NM_182977.3(NNT):c.652C>G (p.Gln218Glu) rs2478331475
NM_182977.3(NNT):c.654G>C (p.Gln218His)
NM_182977.3(NNT):c.670A>G (p.Lys224Glu) rs1749935959
NM_182977.3(NNT):c.713C>T (p.Ala238Val)
NM_182977.3(NNT):c.741G>T (p.Lys247Asn)
NM_182977.3(NNT):c.890T>C (p.Ile297Thr)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.