ClinVar Miner

List of variants in gene NTHL1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 168
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HGVS dbSNP gnomAD frequency
NM_002528.7(NTHL1):c.355-264A>G rs2516726 0.33796
NM_002528.7(NTHL1):c.116-37T>C rs3211968 0.00990
NM_002528.7(NTHL1):c.355-277G>A rs3211975 0.00484
NM_002528.7(NTHL1):c.686-99G>A rs115635561 0.00468
NM_002528.7(NTHL1):c.685+123A>G rs114873327 0.00465
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.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys) rs148104494 0.00086
NM_002528.7(NTHL1):c.712G>A (p.Ala238Thr) rs147559648 0.00043
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter) rs146347092 0.00026
NM_002528.7(NTHL1):c.149C>T (p.Pro50Leu) rs139165943 0.00019
NM_002528.7(NTHL1):c.184G>A (p.Gly62Ser) rs368897948 0.00014
NM_002528.7(NTHL1):c.268A>G (p.Asn90Asp) rs141903513 0.00013
NM_002528.7(NTHL1):c.416C>T (p.Thr139Met) rs756597137 0.00013
NM_002528.7(NTHL1):c.526-11_526-10del rs764393572 0.00011
NM_002528.7(NTHL1):c.44T>C (p.Leu15Pro) rs781328762 0.00010
NM_002528.7(NTHL1):c.556G>A (p.Ala186Thr) rs554393986 0.00010
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.896C>T (p.Pro299Leu) rs367629024 0.00009
NM_002528.7(NTHL1):c.489G>A (p.Thr163=) rs760491144 0.00008
NM_002528.7(NTHL1):c.526-1G>A rs779757251 0.00008
NM_002528.7(NTHL1):c.652A>G (p.Met218Val) rs367577861 0.00008
NM_002528.7(NTHL1):c.769G>A (p.Ala257Thr) rs148474733 0.00008
NM_002528.7(NTHL1):c.103G>C (p.Glu35Gln) rs747272786 0.00007
NM_002528.7(NTHL1):c.37C>T (p.Arg13Trp) rs3087469 0.00007
NM_002528.7(NTHL1):c.677C>T (p.Ser226Leu) rs3211977 0.00007
NM_002528.7(NTHL1):c.29C>G (p.Thr10Ser) rs370539291 0.00006
NM_002528.7(NTHL1):c.31C>T (p.Arg11Trp) rs549760347 0.00006
NM_002528.7(NTHL1):c.455C>T (p.Thr152Met) rs756403102 0.00006
NM_002528.7(NTHL1):c.476C>T (p.Thr159Ile) rs968060928 0.00006
NM_002528.7(NTHL1):c.576C>T (p.Tyr192=) rs541989951 0.00006
NM_002528.7(NTHL1):c.831C>T (p.Phe277=) rs376251044 0.00006
NM_002528.7(NTHL1):c.170G>A (p.Arg57His) rs774831009 0.00005
NM_002528.7(NTHL1):c.285G>A (p.Arg95=) rs141911108 0.00005
NM_002528.7(NTHL1):c.421G>A (p.Gly141Ser) rs762393763 0.00005
NM_002528.7(NTHL1):c.763C>T (p.Arg255Cys) rs779992803 0.00005
NM_002528.7(NTHL1):c.111A>G (p.Ala37=) rs779229970 0.00004
NM_002528.7(NTHL1):c.119C>T (p.Ala40Val) rs375615004 0.00004
NM_002528.7(NTHL1):c.120G>A (p.Ala40=) rs143726834 0.00004
NM_002528.7(NTHL1):c.151C>T (p.Arg51Trp) rs376907606 0.00004
NM_002528.7(NTHL1):c.188C>T (p.Ser63Leu) rs746458904 0.00004
NM_002528.7(NTHL1):c.222C>G (p.Leu74=) rs778667153 0.00004
NM_002528.7(NTHL1):c.348C>A (p.Pro116=) rs145185932 0.00004
NM_002528.7(NTHL1):c.354+4G>T rs771353497 0.00004
NM_002528.7(NTHL1):c.444G>A (p.Ala148=) rs145366761 0.00004
NM_002528.7(NTHL1):c.445C>T (p.Arg149Trp) rs376048896 0.00004
NM_002528.7(NTHL1):c.483T>C (p.Asp161=) rs112724577 0.00004
NM_002528.7(NTHL1):c.71G>A (p.Cys24Tyr) rs1034291686 0.00004
NM_002528.7(NTHL1):c.897G>A (p.Pro299=) rs773331581 0.00004
NM_002528.7(NTHL1):c.9C>T (p.Ala3=) rs765855021 0.00004
NM_002528.7(NTHL1):c.169C>T (p.Arg57Cys) rs767591879 0.00003
NM_002528.7(NTHL1):c.176C>T (p.Ala59Val) rs749810824 0.00003
NM_002528.7(NTHL1):c.273C>T (p.Ile91=) rs751900193 0.00003
NM_002528.7(NTHL1):c.338C>G (p.Ser113Cys) rs375347841 0.00003
NM_002528.7(NTHL1):c.344C>T (p.Ala115Val) rs745986873 0.00003
NM_002528.7(NTHL1):c.345C>T (p.Ala115=) rs781125710 0.00003
NM_002528.7(NTHL1):c.366C>A (p.Tyr122Ter) rs371328106 0.00003
NM_002528.7(NTHL1):c.446G>A (p.Arg149Gln) rs150437839 0.00003
NM_002528.7(NTHL1):c.510C>T (p.Pro170=) rs201980301 0.00003
NM_002528.7(NTHL1):c.577G>A (p.Gly193Ser) rs200007034 0.00003
NM_002528.7(NTHL1):c.686-7C>G rs529341502 0.00003
NM_002528.7(NTHL1):c.7G>T (p.Ala3Ser) rs753350404 0.00003
NM_002528.7(NTHL1):c.115+1G>A rs749908882 0.00002
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.242C>T (p.Pro81Leu) rs753642509 0.00002
NM_002528.7(NTHL1):c.252G>C (p.Trp84Cys) rs372698989 0.00002
NM_002528.7(NTHL1):c.332A>G (p.Tyr111Cys) rs138812334 0.00002
NM_002528.7(NTHL1):c.346C>A (p.Pro116Thr) rs143696592 0.00002
NM_002528.7(NTHL1):c.615G>A (p.Ala205=) rs779702263 0.00002
NM_002528.7(NTHL1):c.791+1G>A rs374616565 0.00002
NM_002528.7(NTHL1):c.802C>T (p.His268Tyr) rs144556130 0.00002
NM_002528.7(NTHL1):c.832G>A (p.Gly278Ser) rs139309757 0.00002
NM_002528.7(NTHL1):c.863G>A (p.Arg288His) rs148253565 0.00002
NM_002528.7(NTHL1):c.-1C>T rs532310992 0.00001
NM_002528.7(NTHL1):c.102A>T (p.Arg34Ser) rs527315265 0.00001
NM_002528.7(NTHL1):c.145C>T (p.Arg49Cys) rs371105614 0.00001
NM_002528.7(NTHL1):c.282G>C (p.Met94Ile) rs1276674075 0.00001
NM_002528.7(NTHL1):c.32G>A (p.Arg11Gln) rs372992221 0.00001
NM_002528.7(NTHL1):c.380C>T (p.Ser127Leu) rs757412628 0.00001
NM_002528.7(NTHL1):c.402C>G (p.Thr134=) rs1169048585 0.00001
NM_002528.7(NTHL1):c.41G>A (p.Ser14Asn) rs746090969 0.00001
NM_002528.7(NTHL1):c.420G>A (p.Ala140=) rs768014084 0.00001
NM_002528.7(NTHL1):c.433C>T (p.Arg145Ter) rs374489979 0.00001
NM_002528.7(NTHL1):c.439C>T (p.Arg147Trp) rs1200691336 0.00001
NM_002528.7(NTHL1):c.440G>A (p.Arg147Gln) rs1431434201 0.00001
NM_002528.7(NTHL1):c.443C>T (p.Ala148Val) rs748576083 0.00001
NM_002528.7(NTHL1):c.47G>C (p.Gly16Ala) rs747325774 0.00001
NM_002528.7(NTHL1):c.486C>T (p.Ala162=) rs201515357 0.00001
NM_002528.7(NTHL1):c.488C>T (p.Thr163Met) rs766136810 0.00001
NM_002528.7(NTHL1):c.491T>C (p.Leu164Pro) rs1162857718 0.00001
NM_002528.7(NTHL1):c.525G>A (p.Arg175=) rs746192138 0.00001
NM_002528.7(NTHL1):c.613G>A (p.Ala205Thr) rs772432408 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.625G>A (p.Val209Ile) rs780658029 0.00001
NM_002528.7(NTHL1):c.680G>A (p.Gly227Asp) rs1055874267 0.00001
NM_002528.7(NTHL1):c.690G>A (p.Val230=) rs756156987 0.00001
NM_002528.7(NTHL1):c.713C>T (p.Ala238Val) rs1185854795 0.00001
NM_002528.7(NTHL1):c.752C>T (p.Pro251Leu) rs1437503034 0.00001
NM_002528.7(NTHL1):c.795del (p.Glu265fs) rs1173366565 0.00001
NM_002528.7(NTHL1):c.812A>G (p.Asn271Ser) rs149287105 0.00001
NM_002528.7(NTHL1):c.843C>A (p.Thr281=) rs779198160 0.00001
NM_002528.7(NTHL1):c.870C>T (p.His290=) rs751057369 0.00001
NM_002528.7(NTHL1):c.900C>T (p.Ala300=) rs569494714 0.00001
NM_002528.7(NTHL1):c.907G>C (p.Gly303Arg) rs375024045 0.00001
NM_002528.7(NTHL1):c.*6G>T rs749620192
NM_002528.7(NTHL1):c.-3G>C rs751927624
NM_002528.7(NTHL1):c.-5C>G rs552723791
NM_002528.7(NTHL1):c.-8A>C rs566165031
NM_002528.7(NTHL1):c.115+4G>A rs780886475
NM_002528.7(NTHL1):c.116-1G>A rs1411394625
NM_002528.7(NTHL1):c.126A>T (p.Lys42Asn) rs1015408170
NM_002528.7(NTHL1):c.130C>G (p.His44Asp) rs374988261
NM_002528.7(NTHL1):c.136C>T (p.Pro46Ser) rs2150947586
NM_002528.7(NTHL1):c.152G>A (p.Arg51Gln) rs773364076
NM_002528.7(NTHL1):c.181G>C (p.Glu61Gln) rs1429511641
NM_002528.7(NTHL1):c.182A>G (p.Glu61Gly) rs2084381041
NM_002528.7(NTHL1):c.203del (p.Gly68fs) rs1555492819
NM_002528.7(NTHL1):c.209G>A (p.Gly70Glu) rs1422162562
NM_002528.7(NTHL1):c.211dup (p.Ala71fs) rs745671590
NM_002528.7(NTHL1):c.269A>T (p.Asn90Ile) rs1442043769
NM_002528.7(NTHL1):c.26T>C (p.Leu9Pro) rs1596228259
NM_002528.7(NTHL1):c.349C>T (p.Pro117Ser) rs149277519
NM_002528.7(NTHL1):c.350C>A (p.Pro117Gln) rs777263711
NM_002528.7(NTHL1):c.350C>T (p.Pro117Leu) rs777263711
NM_002528.7(NTHL1):c.350del (p.Pro117fs) rs763525759
NM_002528.7(NTHL1):c.350dup (p.Val119fs) rs763525759
NM_002528.7(NTHL1):c.354+30dup rs3211971
NM_002528.7(NTHL1):c.355G>T (p.Val119Leu) rs536140679
NM_002528.7(NTHL1):c.358C>T (p.Arg120Cys) rs370228590
NM_002528.7(NTHL1):c.359G>A (p.Arg120His) rs1324289477
NM_002528.7(NTHL1):c.36C>T (p.Ser12=) rs1216311147
NM_002528.7(NTHL1):c.373C>T (p.Leu125=) rs1397440217
NM_002528.7(NTHL1):c.384G>C (p.Leu128=) rs755185485
NM_002528.7(NTHL1):c.440G>T (p.Arg147Leu) rs1431434201
NM_002528.7(NTHL1):c.446G>C (p.Arg149Pro) rs150437839
NM_002528.7(NTHL1):c.455C>A (p.Thr152Lys) rs756403102
NM_002528.7(NTHL1):c.479A>G (p.Asp160Gly) rs1288936702
NM_002528.7(NTHL1):c.511G>A (p.Val171Ile) rs561923127
NM_002528.7(NTHL1):c.511G>C (p.Val171Leu) rs561923127
NM_002528.7(NTHL1):c.516T>G (p.Gly172=) rs1555492398
NM_002528.7(NTHL1):c.521G>A (p.Trp174Ter)
NM_002528.7(NTHL1):c.525+131C>T rs2233520
NM_002528.7(NTHL1):c.526-10T>G rs199771569
NM_002528.7(NTHL1):c.539A>G (p.Tyr180Cys) rs2150941438
NM_002528.7(NTHL1):c.556G>T (p.Ala186Ser)
NM_002528.7(NTHL1):c.564G>A (p.Leu188=) rs1596219422
NM_002528.7(NTHL1):c.585C>T (p.Asp195=) rs2150941343
NM_002528.7(NTHL1):c.614C>A (p.Ala205Glu) rs748719278
NM_002528.7(NTHL1):c.644A>G (p.His215Arg) rs2084298229
NM_002528.7(NTHL1):c.661G>T (p.Ala221Ser) rs1596219280
NM_002528.7(NTHL1):c.695C>A (p.Thr232Lys) rs1308474938
NM_002528.7(NTHL1):c.705C>T (p.His235=) rs992194912
NM_002528.7(NTHL1):c.709dup (p.Ile237fs) rs2150938411
NM_002528.7(NTHL1):c.748T>A (p.Ser250Thr) rs199698117
NM_002528.7(NTHL1):c.763C>G (p.Arg255Gly) rs779992803
NM_002528.7(NTHL1):c.769G>C (p.Ala257Pro) rs148474733
NM_002528.7(NTHL1):c.792-3C>T rs3087467
NM_002528.7(NTHL1):c.793G>A (p.Glu265Lys) rs1596216138
NM_002528.7(NTHL1):c.7G>A (p.Ala3Thr) rs753350404
NM_002528.7(NTHL1):c.823G>A (p.Val275Met) rs759411504
NM_002528.7(NTHL1):c.82C>T (p.Pro28Ser) rs1056290046
NM_002528.7(NTHL1):c.883C>A (p.Gln295Lys) rs2084236498
NM_002528.7(NTHL1):c.96G>C (p.Arg32=) rs1596227764

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