ClinVar Miner

List of variants in gene NTHL1 reported as likely benign by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 236
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HGVS dbSNP gnomAD frequency
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.712G>A (p.Ala238Thr) rs147559648 0.00043
NM_002528.7(NTHL1):c.556G>A (p.Ala186Thr) rs554393986 0.00010
NM_002528.7(NTHL1):c.672T>G (p.Thr224=) rs144204932 0.00010
NM_002528.7(NTHL1):c.877C>G (p.Leu293Val) rs200420874 0.00010
NM_002528.7(NTHL1):c.607C>T (p.Leu203=) rs369076851 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.652A>G (p.Met218Val) rs367577861 0.00008
NM_002528.7(NTHL1):c.769G>A (p.Ala257Thr) rs148474733 0.00008
NM_002528.7(NTHL1):c.29C>G (p.Thr10Ser) rs370539291 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.150G>A (p.Pro50=) rs545609149 0.00005
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.111A>G (p.Ala37=) rs779229970 0.00004
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.348C>A (p.Pro116=) rs145185932 0.00004
NM_002528.7(NTHL1):c.444G>A (p.Ala148=) rs145366761 0.00004
NM_002528.7(NTHL1):c.483T>C (p.Asp161=) rs112724577 0.00004
NM_002528.7(NTHL1):c.765C>T (p.Arg255=) rs902599622 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.273C>T (p.Ile91=) rs751900193 0.00003
NM_002528.7(NTHL1):c.345C>T (p.Ala115=) rs781125710 0.00003
NM_002528.7(NTHL1):c.446G>A (p.Arg149Gln) rs150437839 0.00003
NM_002528.7(NTHL1):c.456G>A (p.Thr152=) rs750798417 0.00003
NM_002528.7(NTHL1):c.510C>T (p.Pro170=) rs201980301 0.00003
NM_002528.7(NTHL1):c.888C>A (p.Ala296=) rs939564399 0.00003
NM_002528.7(NTHL1):c.346C>A (p.Pro116Thr) rs143696592 0.00002
NM_002528.7(NTHL1):c.513C>T (p.Val171=) rs140211154 0.00002
NM_002528.7(NTHL1):c.51C>T (p.Pro17=) rs370814682 0.00002
NM_002528.7(NTHL1):c.615G>A (p.Ala205=) rs779702263 0.00002
NM_002528.7(NTHL1):c.696G>A (p.Thr232=) rs560239348 0.00002
NM_002528.7(NTHL1):c.6C>G (p.Thr2=) rs758854228 0.00002
NM_002528.7(NTHL1):c.813T>C (p.Asn271=) rs1057034087 0.00002
NM_002528.7(NTHL1):c.858C>T (p.His286=) rs755275050 0.00002
NM_002528.7(NTHL1):c.129C>T (p.Ser43=) rs1004057524 0.00001
NM_002528.7(NTHL1):c.141G>A (p.Val47=) rs765058195 0.00001
NM_002528.7(NTHL1):c.146G>A (p.Arg49His) rs566254536 0.00001
NM_002528.7(NTHL1):c.174G>A (p.Val58=) rs769199407 0.00001
NM_002528.7(NTHL1):c.177C>T (p.Ala59=) rs1247133735 0.00001
NM_002528.7(NTHL1):c.17C>T (p.Ala6Val) rs767282292 0.00001
NM_002528.7(NTHL1):c.18G>T (p.Ala6=) rs1471979192 0.00001
NM_002528.7(NTHL1):c.216G>A (p.Glu72=) rs1226069436 0.00001
NM_002528.7(NTHL1):c.258A>G (p.Gln86=) rs2084371810 0.00001
NM_002528.7(NTHL1):c.30C>G (p.Thr10=) rs1036151129 0.00001
NM_002528.7(NTHL1):c.402C>G (p.Thr134=) rs1169048585 0.00001
NM_002528.7(NTHL1):c.408C>T (p.Asp136=) rs1451036395 0.00001
NM_002528.7(NTHL1):c.417G>A (p.Thr139=) rs1044127089 0.00001
NM_002528.7(NTHL1):c.420G>A (p.Ala140=) rs768014084 0.00001
NM_002528.7(NTHL1):c.423C>T (p.Gly141=) rs774887697 0.00001
NM_002528.7(NTHL1):c.438G>A (p.Leu146=) rs201521100 0.00001
NM_002528.7(NTHL1):c.43C>T (p.Leu15=) rs931865828 0.00001
NM_002528.7(NTHL1):c.486C>T (p.Ala162=) rs201515357 0.00001
NM_002528.7(NTHL1):c.519C>T (p.Phe173=) rs1401228518 0.00001
NM_002528.7(NTHL1):c.540C>T (p.Tyr180=) rs750162495 0.00001
NM_002528.7(NTHL1):c.555C>T (p.Ser185=) rs756943656 0.00001
NM_002528.7(NTHL1):c.594C>G (p.Ala198=) rs1372740198 0.00001
NM_002528.7(NTHL1):c.603C>T (p.Ala201=) rs747289981 0.00001
NM_002528.7(NTHL1):c.60G>T (p.Gly20=) rs1156299739 0.00001
NM_002528.7(NTHL1):c.621G>A (p.Pro207=) rs745383145 0.00001
NM_002528.7(NTHL1):c.63G>A (p.Pro21=) rs1020317766 0.00001
NM_002528.7(NTHL1):c.66G>C (p.Arg22=) rs755616986 0.00001
NM_002528.7(NTHL1):c.690G>A (p.Val230=) rs756156987 0.00001
NM_002528.7(NTHL1):c.69G>T (p.Gly23=) rs767225352 0.00001
NM_002528.7(NTHL1):c.711C>T (p.Ile237=) rs751951515 0.00001
NM_002528.7(NTHL1):c.717C>T (p.Asn239=) rs1475205147 0.00001
NM_002528.7(NTHL1):c.73A>G (p.Arg25Gly) rs369039003 0.00001
NM_002528.7(NTHL1):c.75G>A (p.Arg25=) rs1274325491 0.00001
NM_002528.7(NTHL1):c.819C>T (p.Leu273=) rs769544798 0.00001
NM_002528.7(NTHL1):c.81G>A (p.Glu27=) rs1596227883 0.00001
NM_002528.7(NTHL1):c.834C>T (p.Gly278=) rs747049346 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.87G>A (p.Gly29=) rs775360403 0.00001
NM_002528.7(NTHL1):c.900C>T (p.Ala300=) rs569494714 0.00001
NM_002528.7(NTHL1):c.906G>A (p.Gln302=) rs1218521260 0.00001
NM_002528.7(NTHL1):c.93C>T (p.Leu31=) rs1171088713 0.00001
NM_002528.6(NTHL1):c.12G>T (p.Pro4=)
NM_002528.7(NTHL1):c.-10G>A
NM_002528.7(NTHL1):c.-5C>G rs552723791
NM_002528.7(NTHL1):c.10T>C (p.Leu4=)
NM_002528.7(NTHL1):c.120G>C (p.Ala40=)
NM_002528.7(NTHL1):c.120G>T (p.Ala40=)
NM_002528.7(NTHL1):c.12G>A (p.Leu4=)
NM_002528.7(NTHL1):c.132C>T (p.His44=)
NM_002528.7(NTHL1):c.135C>T (p.Ser45=) rs2150947604
NM_002528.7(NTHL1):c.144G>A (p.Lys48=)
NM_002528.7(NTHL1):c.168G>A (p.Leu56=) rs2150947154
NM_002528.7(NTHL1):c.186C>G (p.Gly62=) rs944269320
NM_002528.7(NTHL1):c.186C>T (p.Gly62=) rs944269320
NM_002528.7(NTHL1):c.189G>A (p.Ser63=) rs757957149
NM_002528.7(NTHL1):c.189G>C (p.Ser63=) rs757957149
NM_002528.7(NTHL1):c.198G>A (p.Glu66=)
NM_002528.7(NTHL1):c.213T>C (p.Ala71=)
NM_002528.7(NTHL1):c.213T>G (p.Ala71=)
NM_002528.7(NTHL1):c.219C>T (p.Pro73=)
NM_002528.7(NTHL1):c.21G>A (p.Arg7=) rs762030002
NM_002528.7(NTHL1):c.225G>A (p.Lys75=)
NM_002528.7(NTHL1):c.231A>C (p.Pro77=)
NM_002528.7(NTHL1):c.240G>A (p.Glu80=)
NM_002528.7(NTHL1):c.246G>A (p.Gln82=)
NM_002528.7(NTHL1):c.255G>A (p.Gln85=) rs2150946038
NM_002528.7(NTHL1):c.25C>T (p.Leu9=)
NM_002528.7(NTHL1):c.261G>A (p.Gln87=)
NM_002528.7(NTHL1):c.264G>T (p.Leu88=) rs1009261529
NM_002528.7(NTHL1):c.266T>C (p.Val89Ala)
NM_002528.7(NTHL1):c.270C>T (p.Asn90=)
NM_002528.7(NTHL1):c.276T>G (p.Arg92=)
NM_002528.7(NTHL1):c.27G>A (p.Leu9=) rs2150958575
NM_002528.7(NTHL1):c.287A>G (p.Asn96Ser) rs1455998081
NM_002528.7(NTHL1):c.288C>T (p.Asn96=)
NM_002528.7(NTHL1):c.291A>G (p.Lys97=)
NM_002528.7(NTHL1):c.30C>A (p.Thr10=)
NM_002528.7(NTHL1):c.30C>T (p.Thr10=)
NM_002528.7(NTHL1):c.312T>G (p.His104Gln)
NM_002528.7(NTHL1):c.313C>T (p.Leu105=) rs1386204098
NM_002528.7(NTHL1):c.321T>C (p.Thr107=)
NM_002528.7(NTHL1):c.327C>T (p.His109=)
NM_002528.7(NTHL1):c.330C>T (p.Cys110=) rs2150945100
NM_002528.7(NTHL1):c.336C>T (p.Asp112=)
NM_002528.7(NTHL1):c.339C>T (p.Ser113=)
NM_002528.7(NTHL1):c.33G>C (p.Arg11=)
NM_002528.7(NTHL1):c.348C>G (p.Pro116=) rs145185932
NM_002528.7(NTHL1):c.348C>T (p.Pro116=) rs145185932
NM_002528.7(NTHL1):c.355G>T (p.Val119Leu) rs536140679
NM_002528.7(NTHL1):c.357A>C (p.Val119=) rs776325627
NM_002528.7(NTHL1):c.357A>G (p.Val119=) rs776325627
NM_002528.7(NTHL1):c.363G>A (p.Arg121=) rs1048431740
NM_002528.7(NTHL1):c.36C>T (p.Ser12=) rs1216311147
NM_002528.7(NTHL1):c.372G>T (p.Val124=)
NM_002528.7(NTHL1):c.376C>T (p.Leu126=) rs2150942503
NM_002528.7(NTHL1):c.378G>A (p.Leu126=)
NM_002528.7(NTHL1):c.37C>A (p.Arg13=) rs3087469
NM_002528.7(NTHL1):c.384G>C (p.Leu128=) rs755185485
NM_002528.7(NTHL1):c.384G>T (p.Leu128=)
NM_002528.7(NTHL1):c.390C>G (p.Leu130=) rs1596220481
NM_002528.7(NTHL1):c.393C>T (p.Ser131=)
NM_002528.7(NTHL1):c.396C>T (p.Ser132=)
NM_002528.7(NTHL1):c.39G>C (p.Arg13=) rs1282431142
NM_002528.7(NTHL1):c.402C>T (p.Thr134=) rs1169048585
NM_002528.7(NTHL1):c.420G>C (p.Ala140=)
NM_002528.7(NTHL1):c.42C>T (p.Ser14=) rs898348644
NM_002528.7(NTHL1):c.432G>A (p.Gln144=) rs1304149274
NM_002528.7(NTHL1):c.435A>G (p.Arg145=) rs2150942359
NM_002528.7(NTHL1):c.436C>T (p.Leu146=)
NM_002528.7(NTHL1):c.446G>C (p.Arg149Pro) rs150437839
NM_002528.7(NTHL1):c.447G>C (p.Arg149=)
NM_002528.7(NTHL1):c.450C>T (p.Gly150=) rs962452543
NM_002528.7(NTHL1):c.451C>T (p.Leu151=) rs2150942315
NM_002528.7(NTHL1):c.453G>T (p.Leu151=)
NM_002528.7(NTHL1):c.456G>T (p.Thr152=) rs750798417
NM_002528.7(NTHL1):c.459G>A (p.Val153=) rs2150942290
NM_002528.7(NTHL1):c.45G>C (p.Leu15=)
NM_002528.7(NTHL1):c.465C>T (p.Ser155=)
NM_002528.7(NTHL1):c.468C>T (p.Ile156=) rs752220394
NM_002528.7(NTHL1):c.469C>T (p.Leu157=)
NM_002528.7(NTHL1):c.471G>A (p.Leu157=)
NM_002528.7(NTHL1):c.489G>T (p.Thr163=) rs760491144
NM_002528.7(NTHL1):c.490C>T (p.Leu164=)
NM_002528.7(NTHL1):c.495C>G (p.Gly165=) rs2150942226
NM_002528.7(NTHL1):c.507C>T (p.Tyr169=)
NM_002528.7(NTHL1):c.510C>A (p.Pro170=)
NM_002528.7(NTHL1):c.516T>G (p.Gly172=) rs1555492398
NM_002528.7(NTHL1):c.528C>T (p.Ser176=) rs202246675
NM_002528.7(NTHL1):c.531G>A (p.Lys177=)
NM_002528.7(NTHL1):c.534G>A (p.Val178=) rs1596219446
NM_002528.7(NTHL1):c.543C>T (p.Ile181=)
NM_002528.7(NTHL1):c.549G>A (p.Gln183=)
NM_002528.7(NTHL1):c.54G>C (p.Gly18=) rs967224859
NM_002528.7(NTHL1):c.552C>G (p.Thr184=)
NM_002528.7(NTHL1):c.552C>T (p.Thr184=)
NM_002528.7(NTHL1):c.562C>T (p.Leu188=) rs1233302662
NM_002528.7(NTHL1):c.564G>A (p.Leu188=) rs1596219422
NM_002528.7(NTHL1):c.570G>A (p.Gln190=)
NM_002528.7(NTHL1):c.572A>G (p.His191Arg) rs1226532313
NM_002528.7(NTHL1):c.582G>A (p.Gly194=) rs1025984433
NM_002528.7(NTHL1):c.585C>T (p.Asp195=) rs2150941343
NM_002528.7(NTHL1):c.588C>T (p.Ile196=)
NM_002528.7(NTHL1):c.594C>A (p.Ala198=)
NM_002528.7(NTHL1):c.594C>T (p.Ala198=) rs1372740198
NM_002528.7(NTHL1):c.603C>G (p.Ala201=) rs747289981
NM_002528.7(NTHL1):c.618G>A (p.Leu206=)
NM_002528.7(NTHL1):c.621G>C (p.Pro207=) rs745383145
NM_002528.7(NTHL1):c.663C>A (p.Ala221=)
NM_002528.7(NTHL1):c.66G>A (p.Arg22=) rs755616986
NM_002528.7(NTHL1):c.66G>T (p.Arg22=) rs755616986
NM_002528.7(NTHL1):c.675G>A (p.Val225=)
NM_002528.7(NTHL1):c.690G>C (p.Val230=) rs756156987
NM_002528.7(NTHL1):c.696G>C (p.Thr232=) rs560239348
NM_002528.7(NTHL1):c.699T>C (p.His233=) rs1596216488
NM_002528.7(NTHL1):c.69G>A (p.Gly23=) rs767225352
NM_002528.7(NTHL1):c.6C>T (p.Thr2=) rs758854228
NM_002528.7(NTHL1):c.702G>A (p.Val234=) rs2150938422
NM_002528.7(NTHL1):c.714C>T (p.Ala238=)
NM_002528.7(NTHL1):c.720G>A (p.Arg240=) rs2084243484
NM_002528.7(NTHL1):c.724A>C (p.Arg242=)
NM_002528.7(NTHL1):c.72T>C (p.Cys24=) rs1265227121
NM_002528.7(NTHL1):c.735G>A (p.Lys245=)
NM_002528.7(NTHL1):c.743C>T (p.Thr248Ile) rs577781337
NM_002528.7(NTHL1):c.744C>G (p.Thr248=) rs772742086
NM_002528.7(NTHL1):c.747G>A (p.Lys249=)
NM_002528.7(NTHL1):c.762C>A (p.Thr254=) rs1460930699
NM_002528.7(NTHL1):c.768C>T (p.Ala256=) rs781469017
NM_002528.7(NTHL1):c.771C>T (p.Ala257=) rs1022914690
NM_002528.7(NTHL1):c.772C>T (p.Leu258=)
NM_002528.7(NTHL1):c.786G>A (p.Leu262=) rs2150938192
NM_002528.7(NTHL1):c.789T>G (p.Pro263=) rs964969130
NM_002528.7(NTHL1):c.78G>A (p.Glu26=)
NM_002528.7(NTHL1):c.792-3C>T rs3087467
NM_002528.7(NTHL1):c.792G>A (p.Arg264=)
NM_002528.7(NTHL1):c.804C>T (p.His268=) rs1596216112
NM_002528.7(NTHL1):c.807G>A (p.Glu269=) rs1426153929
NM_002528.7(NTHL1):c.810C>A (p.Ile270=)
NM_002528.7(NTHL1):c.816A>G (p.Gly272=)
NM_002528.7(NTHL1):c.828C>T (p.Gly276=)
NM_002528.7(NTHL1):c.840G>A (p.Gln280=)
NM_002528.7(NTHL1):c.843C>T (p.Thr281=)
NM_002528.7(NTHL1):c.846T>C (p.Cys282=) rs1430735660
NM_002528.7(NTHL1):c.855G>A (p.Val285=)
NM_002528.7(NTHL1):c.855G>T (p.Val285=)
NM_002528.7(NTHL1):c.857A>G (p.His286Arg)
NM_002528.7(NTHL1):c.87G>C (p.Gly29=) rs775360403
NM_002528.7(NTHL1):c.884A>G (p.Gln295Arg)
NM_002528.7(NTHL1):c.897G>T (p.Pro299=) rs773331581
NM_002528.7(NTHL1):c.909T>C (p.Gly303=)
NM_002528.7(NTHL1):c.914G>A (p.Ter305=)
NM_002528.7(NTHL1):c.93C>A (p.Leu31=) rs1171088713
NM_002528.7(NTHL1):c.97A>C (p.Arg33=)

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