ClinVar Miner

List of variants in gene NTHL1 studied for not specified

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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_002528.7(NTHL1):c.116-17C>T rs2233518 0.01075
NM_002528.7(NTHL1):c.116-37T>C rs3211968 0.00990
NM_002528.7(NTHL1):c.116-10C>G rs3211970 0.00366
NM_002528.7(NTHL1):c.113C>T (p.Ala38Val) rs202082304 0.00305
NM_002528.7(NTHL1):c.503T>C (p.Ile168Thr) rs1805378 0.00155
NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys) rs148104494 0.00086
NM_002528.7(NTHL1):c.355-34G>A rs369651668 0.00061
NM_002528.7(NTHL1):c.355-37C>T rs3087466 0.00058
NM_002528.7(NTHL1):c.*30T>C rs371249070 0.00054
NM_002528.7(NTHL1):c.526-44G>C rs2233521 0.00048
NM_002528.7(NTHL1):c.116-16G>A rs145790217 0.00033
NM_002528.7(NTHL1):c.791+10T>G rs564181825 0.00019
NM_002528.7(NTHL1):c.115+24C>T rs758065714 0.00018
NM_002528.7(NTHL1):c.115+17G>A rs377258199 0.00010
NM_002528.7(NTHL1):c.115+10C>A rs756945300 0.00009
NM_002528.7(NTHL1):c.607C>T (p.Leu203=) rs369076851 0.00009
NM_002528.7(NTHL1):c.746A>G (p.Lys249Arg) rs373067940 0.00009
NM_002528.7(NTHL1):c.769G>A (p.Ala257Thr) rs148474733 0.00008
NM_002528.7(NTHL1):c.685+17G>A rs553209172 0.00007
NM_002528.7(NTHL1):c.85G>A (p.Gly29Arg) rs1161055704 0.00007
NM_002528.7(NTHL1):c.120G>A (p.Ala40=) rs143726834 0.00004
NM_002528.7(NTHL1):c.138C>T (p.Pro46=) rs752395301 0.00004
NM_002528.7(NTHL1):c.222C>G (p.Leu74=) rs778667153 0.00004
NM_002528.7(NTHL1):c.354+4G>T rs771353497 0.00004
NM_002528.7(NTHL1):c.765C>T (p.Arg255=) rs902599622 0.00004
NM_002528.7(NTHL1):c.9C>T (p.Ala3=) rs765855021 0.00004
NM_002528.7(NTHL1):c.273C>T (p.Ile91=) rs751900193 0.00003
NM_002528.7(NTHL1):c.345C>T (p.Ala115=) rs781125710 0.00003
NM_002528.7(NTHL1):c.577G>A (p.Gly193Ser) rs200007034 0.00003
NM_002528.7(NTHL1):c.115+6G>A rs1036098566 0.00002
NM_002528.7(NTHL1):c.20G>C (p.Arg7Thr) rs930166212 0.00002
NM_002528.7(NTHL1):c.332A>G (p.Tyr111Cys) rs138812334 0.00002
NM_002528.7(NTHL1):c.-1C>T rs532310992 0.00001
NM_002528.7(NTHL1):c.174G>A (p.Val58=) rs769199407 0.00001
NM_002528.7(NTHL1):c.225G>C (p.Lys75Asn) rs1432630427 0.00001
NM_002528.7(NTHL1):c.354+16_354+19dup rs761177500 0.00001
NM_002528.7(NTHL1):c.41G>A (p.Ser14Asn) rs746090969 0.00001
NM_002528.7(NTHL1):c.443C>T (p.Ala148Val) rs748576083 0.00001
NM_002528.7(NTHL1):c.614C>T (p.Ala205Val) rs748719278 0.00001
NM_002528.7(NTHL1):c.621G>A (p.Pro207=) rs745383145 0.00001
NM_002528.7(NTHL1):c.680G>A (p.Gly227Asp) rs1055874267 0.00001
NM_002528.7(NTHL1):c.81G>A (p.Glu27=) rs1596227883 0.00001
NM_002528.7(NTHL1):c.843C>A (p.Thr281=) rs779198160 0.00001
NM_002528.7(NTHL1):c.*31G>A
NM_002528.7(NTHL1):c.216G>C (p.Glu72Asp)
NM_002528.7(NTHL1):c.269A>G (p.Asn90Ser) rs1442043769
NM_002528.7(NTHL1):c.302C>T (p.Pro101Leu)
NM_002528.7(NTHL1):c.309C>T (p.Asp103=) rs2150945346
NM_002528.7(NTHL1):c.349C>A (p.Pro117Thr) rs149277519
NM_002528.7(NTHL1):c.350C>T (p.Pro117Leu) rs777263711
NM_002528.7(NTHL1):c.354+30dup rs3211971
NM_002528.7(NTHL1):c.354+33C>T
NM_002528.7(NTHL1):c.355-32C>T
NM_002528.7(NTHL1):c.516T>G (p.Gly172=) rs1555492398
NM_002528.7(NTHL1):c.526-12_526-11del rs2150941472
NM_002528.7(NTHL1):c.526-36del
NM_002528.7(NTHL1):c.526-45G>A
NM_002528.7(NTHL1):c.65G>A (p.Arg22Gln)
NM_002528.7(NTHL1):c.685+33C>T
NM_002528.7(NTHL1):c.686-38G>C
NM_002528.7(NTHL1):c.688G>C (p.Val230Leu)
NM_002528.7(NTHL1):c.791+35G>A
NM_002528.7(NTHL1):c.792-39C>T
NM_002528.7(NTHL1):c.792-3C>T rs3087467
NM_002528.7(NTHL1):c.7G>A (p.Ala3Thr) rs753350404
NM_002528.7(NTHL1):c.890T>C (p.Leu297Pro) rs2150937774

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