ClinVar Miner

List of variants in gene NTHL1 reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 426
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HGVS dbSNP gnomAD frequency
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.274C>T (p.Arg92Cys) rs148104494 0.00086
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.526-11_526-10del rs764393572 0.00011
NM_002528.7(NTHL1):c.672T>G (p.Thr224=) rs144204932 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.489G>A (p.Thr163=) rs760491144 0.00008
NM_002528.7(NTHL1):c.792-19C>G rs555400420 0.00008
NM_002528.7(NTHL1):c.37C>T (p.Arg13Trp) rs3087469 0.00007
NM_002528.7(NTHL1):c.685+17G>A rs553209172 0.00007
NM_002528.7(NTHL1):c.116-11G>T rs749856369 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.285G>A (p.Arg95=) rs141911108 0.00005
NM_002528.7(NTHL1):c.526-16C>G rs778087002 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.354+4G>T rs771353497 0.00004
NM_002528.7(NTHL1):c.355-20C>T rs372232458 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.115+14G>A rs751231422 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.456G>A (p.Thr152=) rs750798417 0.00003
NM_002528.7(NTHL1):c.510C>T (p.Pro170=) rs201980301 0.00003
NM_002528.7(NTHL1):c.685+13G>C rs762269750 0.00003
NM_002528.7(NTHL1):c.686-7C>G rs529341502 0.00003
NM_002528.7(NTHL1):c.888C>A (p.Ala296=) rs939564399 0.00003
NM_002528.7(NTHL1):c.115+6G>A rs1036098566 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.526-11C>T rs947582986 0.00002
NM_002528.7(NTHL1):c.615G>A (p.Ala205=) rs779702263 0.00002
NM_002528.7(NTHL1):c.686-18C>T rs995139097 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.-1C>T rs532310992 0.00001
NM_002528.7(NTHL1):c.115+15T>C rs1438462968 0.00001
NM_002528.7(NTHL1):c.115+19T>G rs1320223668 0.00001
NM_002528.7(NTHL1):c.116-9T>C rs1596223613 0.00001
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.174G>A (p.Val58=) rs769199407 0.00001
NM_002528.7(NTHL1):c.177C>T (p.Ala59=) rs1247133735 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.306G>A (p.Val102=) rs1392029559 0.00001
NM_002528.7(NTHL1):c.30C>G (p.Thr10=) rs1036151129 0.00001
NM_002528.7(NTHL1):c.354+16_354+19dup rs761177500 0.00001
NM_002528.7(NTHL1):c.354+20G>A rs1409660372 0.00001
NM_002528.7(NTHL1):c.355-11T>G rs775138715 0.00001
NM_002528.7(NTHL1):c.355-7C>T rs769348183 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.492G>A (p.Leu164=) rs1241018958 0.00001
NM_002528.7(NTHL1):c.498G>A (p.Lys166=) rs2084316738 0.00001
NM_002528.7(NTHL1):c.519C>T (p.Phe173=) rs1401228518 0.00001
NM_002528.7(NTHL1):c.525+14G>A rs950917950 0.00001
NM_002528.7(NTHL1):c.526-13C>T rs758969794 0.00001
NM_002528.7(NTHL1):c.526-8T>C rs1450416555 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.669C>T (p.Gly223=) rs2084297867 0.00001
NM_002528.7(NTHL1):c.66G>C (p.Arg22=) rs755616986 0.00001
NM_002528.7(NTHL1):c.685+16C>T rs774941231 0.00001
NM_002528.7(NTHL1):c.685+20G>A rs879107795 0.00001
NM_002528.7(NTHL1):c.685+8G>C rs772628458 0.00001
NM_002528.7(NTHL1):c.686-15T>C rs753877022 0.00001
NM_002528.7(NTHL1):c.686-4G>A rs1285427476 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.75G>A (p.Arg25=) rs1274325491 0.00001
NM_002528.7(NTHL1):c.791+12T>C rs1420065748 0.00001
NM_002528.7(NTHL1):c.791+13G>A rs773931134 0.00001
NM_002528.7(NTHL1):c.791+14G>A rs1424497453 0.00001
NM_002528.7(NTHL1):c.792-6C>G rs766881122 0.00001
NM_002528.7(NTHL1):c.792-9C>T rs200714075 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_002528.7(NTHL1):c.*6G>T rs749620192
NM_002528.7(NTHL1):c.-7G>A rs2084532028
NM_002528.7(NTHL1):c.100A>C (p.Arg34=) rs1596227748
NM_002528.7(NTHL1):c.105G>A (p.Glu35=) rs1596227700
NM_002528.7(NTHL1):c.108T>A (p.Ala36=)
NM_002528.7(NTHL1):c.108T>G (p.Ala36=) rs2150957361
NM_002528.7(NTHL1):c.115+10C>T rs756945300
NM_002528.7(NTHL1):c.115+13C>T
NM_002528.7(NTHL1):c.115+16G>C
NM_002528.7(NTHL1):c.115+17G>C
NM_002528.7(NTHL1):c.115+19T>A
NM_002528.7(NTHL1):c.115+4G>A rs780886475
NM_002528.7(NTHL1):c.115+5C>T
NM_002528.7(NTHL1):c.115+7C>T rs2150957149
NM_002528.7(NTHL1):c.115+8C>A
NM_002528.7(NTHL1):c.115+8C>G rs2150957124
NM_002528.7(NTHL1):c.115+9G>A rs1393884097
NM_002528.7(NTHL1):c.115+9G>T rs1393884097
NM_002528.7(NTHL1):c.116-10C>T rs3211970
NM_002528.7(NTHL1):c.116-10dup rs1161474192
NM_002528.7(NTHL1):c.116-11G>A rs749856369
NM_002528.7(NTHL1):c.116-12T>C rs2150947945
NM_002528.7(NTHL1):c.116-13G>A
NM_002528.7(NTHL1):c.116-13G>C
NM_002528.7(NTHL1):c.116-13G>T rs2084389434
NM_002528.7(NTHL1):c.116-18G>C
NM_002528.7(NTHL1):c.116-20C>A rs2150948042
NM_002528.7(NTHL1):c.116-5T>C
NM_002528.7(NTHL1):c.116-9dup rs1596223593
NM_002528.7(NTHL1):c.120G>C (p.Ala40=)
NM_002528.7(NTHL1):c.123G>A (p.Arg41=) rs2084387412
NM_002528.7(NTHL1):c.132C>T (p.His44=)
NM_002528.7(NTHL1):c.138C>A (p.Pro46=)
NM_002528.7(NTHL1):c.150G>C (p.Pro50=)
NM_002528.7(NTHL1):c.156A>G (p.Lys52=) rs2150947326
NM_002528.7(NTHL1):c.159A>G (p.Ala53=) rs2150947277
NM_002528.7(NTHL1):c.15C>T (p.Ser5=) rs1596228346
NM_002528.7(NTHL1):c.168G>A (p.Leu56=) rs2150947154
NM_002528.7(NTHL1):c.171T>C (p.Arg57=) rs2150947100
NM_002528.7(NTHL1):c.177C>A (p.Ala59=) rs1247133735
NM_002528.7(NTHL1):c.183G>A (p.Glu61=) rs1596223267
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.18G>A (p.Ala6=) rs1471979192
NM_002528.7(NTHL1):c.207G>A (p.Glu69=) rs2150946712
NM_002528.7(NTHL1):c.210G>A (p.Gly70=) rs1294880190
NM_002528.7(NTHL1):c.210G>T (p.Gly70=)
NM_002528.7(NTHL1):c.213T>C (p.Ala71=)
NM_002528.7(NTHL1):c.21G>A (p.Arg7=) rs762030002
NM_002528.7(NTHL1):c.231A>C (p.Pro77=)
NM_002528.7(NTHL1):c.231A>G (p.Pro77=) rs754699488
NM_002528.7(NTHL1):c.234C>G (p.Val78=) rs1596223055
NM_002528.7(NTHL1):c.234C>T (p.Val78=) rs1596223055
NM_002528.7(NTHL1):c.249C>T (p.Asp83=) rs2084372612
NM_002528.7(NTHL1):c.255G>A (p.Gln85=) rs2150946038
NM_002528.7(NTHL1):c.25C>T (p.Leu9=)
NM_002528.7(NTHL1):c.264G>A (p.Leu88=) rs1009261529
NM_002528.7(NTHL1):c.264G>T (p.Leu88=) rs1009261529
NM_002528.7(NTHL1):c.267C>G (p.Val89=)
NM_002528.7(NTHL1):c.27G>A (p.Leu9=) rs2150958575
NM_002528.7(NTHL1):c.288C>T (p.Asn96=)
NM_002528.7(NTHL1):c.297T>C (p.Asp99=) rs1596222702
NM_002528.7(NTHL1):c.300A>G (p.Ala100=) rs2150945493
NM_002528.7(NTHL1):c.303T>A (p.Pro101=)
NM_002528.7(NTHL1):c.30C>A (p.Thr10=)
NM_002528.7(NTHL1):c.313C>T (p.Leu105=) rs1386204098
NM_002528.7(NTHL1):c.318G>A (p.Gly106=) rs1596222612
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.33G>A (p.Arg11=)
NM_002528.7(NTHL1):c.33G>C (p.Arg11=)
NM_002528.7(NTHL1):c.33G>T (p.Arg11=) rs2150958491
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.351A>G (p.Pro117=)
NM_002528.7(NTHL1):c.354+11G>A rs1596222395
NM_002528.7(NTHL1):c.354+11G>C rs1596222395
NM_002528.7(NTHL1):c.354+12C>A
NM_002528.7(NTHL1):c.354+12C>T
NM_002528.7(NTHL1):c.354+13C>T rs1409807736
NM_002528.7(NTHL1):c.354+14C>T
NM_002528.7(NTHL1):c.354+16A>G
NM_002528.7(NTHL1):c.354+18C>A
NM_002528.7(NTHL1):c.354+19T>A
NM_002528.7(NTHL1):c.354+30dup rs3211971
NM_002528.7(NTHL1):c.354+8G>A rs2150944676
NM_002528.7(NTHL1):c.354+9G>C rs2150944661
NM_002528.7(NTHL1):c.355-10G>A rs2084320531
NM_002528.7(NTHL1):c.355-13A>G
NM_002528.7(NTHL1):c.355-14C>T rs1206220588
NM_002528.7(NTHL1):c.355-17T>C rs2084320681
NM_002528.7(NTHL1):c.355-19C>T
NM_002528.7(NTHL1):c.355-20C>A
NM_002528.7(NTHL1):c.355-4G>A rs1245963500
NM_002528.7(NTHL1):c.355-4G>C rs1245963500
NM_002528.7(NTHL1):c.355-6A>C
NM_002528.7(NTHL1):c.355-6A>G rs2150942567
NM_002528.7(NTHL1):c.355-8A>C rs2150942571
NM_002528.7(NTHL1):c.355-9C>T rs1596220562
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.360C>T (p.Arg120=) rs566860680
NM_002528.7(NTHL1):c.363G>A (p.Arg121=) rs1048431740
NM_002528.7(NTHL1):c.366C>T (p.Tyr122=) rs371328106
NM_002528.7(NTHL1):c.36C>T (p.Ser12=) rs1216311147
NM_002528.7(NTHL1):c.372G>A (p.Val124=) rs748183280
NM_002528.7(NTHL1):c.373C>T (p.Leu125=) rs1397440217
NM_002528.7(NTHL1):c.375G>A (p.Leu125=) rs1596220502
NM_002528.7(NTHL1):c.375G>C (p.Leu125=) rs1596220502
NM_002528.7(NTHL1):c.376C>T (p.Leu126=) rs2150942503
NM_002528.7(NTHL1):c.378G>A (p.Leu126=)
NM_002528.7(NTHL1):c.378G>C (p.Leu126=)
NM_002528.7(NTHL1):c.384G>C (p.Leu128=) rs755185485
NM_002528.7(NTHL1):c.390C>G (p.Leu130=) rs1596220481
NM_002528.7(NTHL1):c.390C>T (p.Leu130=) rs1596220481
NM_002528.7(NTHL1):c.39G>A (p.Arg13=) rs1282431142
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.405A>G (p.Lys135=) rs2150942448
NM_002528.7(NTHL1):c.411G>A (p.Gln137=)
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.447G>T (p.Arg149=) rs2150942324
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>A (p.Leu151=) rs1596220348
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.45G>T (p.Leu15=) rs1367601001
NM_002528.7(NTHL1):c.468C>A (p.Ile156=) rs752220394
NM_002528.7(NTHL1):c.468C>T (p.Ile156=) rs752220394
NM_002528.7(NTHL1):c.471G>A (p.Leu157=)
NM_002528.7(NTHL1):c.489G>T (p.Thr163=) rs760491144
NM_002528.7(NTHL1):c.492G>T (p.Leu164=) rs1241018958
NM_002528.7(NTHL1):c.495C>G (p.Gly165=) rs2150942226
NM_002528.7(NTHL1):c.504C>A (p.Ile168=) rs2084316556
NM_002528.7(NTHL1):c.507C>T (p.Tyr169=)
NM_002528.7(NTHL1):c.513C>A (p.Val171=) rs140211154
NM_002528.7(NTHL1):c.516T>G (p.Gly172=) rs1555492398
NM_002528.7(NTHL1):c.51C>A (p.Pro17=)
NM_002528.7(NTHL1):c.51C>G (p.Pro17=) rs370814682
NM_002528.7(NTHL1):c.525+10G>A rs2150942168
NM_002528.7(NTHL1):c.525+131C>T rs2233520
NM_002528.7(NTHL1):c.525+14G>C
NM_002528.7(NTHL1):c.525+16G>A
NM_002528.7(NTHL1):c.525+17G>A rs2150942159
NM_002528.7(NTHL1):c.525+7C>A
NM_002528.7(NTHL1):c.525+9T>C rs2150942171
NM_002528.7(NTHL1):c.526-10T>C rs199771569
NM_002528.7(NTHL1):c.526-10T>G rs199771569
NM_002528.7(NTHL1):c.526-12C>A rs748774265
NM_002528.7(NTHL1):c.526-12C>G rs748774265
NM_002528.7(NTHL1):c.526-12C>T
NM_002528.7(NTHL1):c.526-14C>T
NM_002528.7(NTHL1):c.526-15A>G
NM_002528.7(NTHL1):c.526-16C>T
NM_002528.7(NTHL1):c.526-17C>G
NM_002528.7(NTHL1):c.526-17C>T
NM_002528.7(NTHL1):c.526-18C>G
NM_002528.7(NTHL1):c.526-5T>C rs2150941454
NM_002528.7(NTHL1):c.526-9G>A
NM_002528.7(NTHL1):c.528C>T (p.Ser176=) rs202246675
NM_002528.7(NTHL1):c.534G>A (p.Val178=) rs1596219446
NM_002528.7(NTHL1):c.537A>G (p.Lys179=)
NM_002528.7(NTHL1):c.54G>C (p.Gly18=) rs967224859
NM_002528.7(NTHL1):c.558C>G (p.Ala186=) rs2150941398
NM_002528.7(NTHL1):c.561C>T (p.Ile187=) rs2150941393
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.564G>C (p.Leu188=) rs1596219422
NM_002528.7(NTHL1):c.573C>T (p.His191=) rs2150941365
NM_002528.7(NTHL1):c.582G>A (p.Gly194=) rs1025984433
NM_002528.7(NTHL1):c.582G>T (p.Gly194=) rs1025984433
NM_002528.7(NTHL1):c.585C>T (p.Asp195=) rs2150941343
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>A (p.Ala201=) rs747289981
NM_002528.7(NTHL1):c.603C>G (p.Ala201=) rs747289981
NM_002528.7(NTHL1):c.616C>T (p.Leu206=) rs2084298971
NM_002528.7(NTHL1):c.618G>T (p.Leu206=)
NM_002528.7(NTHL1):c.621G>C (p.Pro207=) rs745383145
NM_002528.7(NTHL1):c.630G>T (p.Gly210=)
NM_002528.7(NTHL1):c.636G>A (p.Lys212=)
NM_002528.7(NTHL1):c.646C>T (p.Leu216=) rs751282646
NM_002528.7(NTHL1):c.660G>A (p.Val220=) rs2150941188
NM_002528.7(NTHL1):c.663C>G (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.672T>C (p.Thr224=) rs144204932
NM_002528.7(NTHL1):c.675G>A (p.Val225=)
NM_002528.7(NTHL1):c.678A>C (p.Ser226=)
NM_002528.7(NTHL1):c.681C>T (p.Gly227=) rs1596219238
NM_002528.7(NTHL1):c.684T>C (p.Ile228=) rs1596219230
NM_002528.7(NTHL1):c.685+11G>A
NM_002528.7(NTHL1):c.685+11G>T rs756612488
NM_002528.7(NTHL1):c.685+12A>G rs2150941111
NM_002528.7(NTHL1):c.685+14G>A rs2150941109
NM_002528.7(NTHL1):c.685+14G>C
NM_002528.7(NTHL1):c.685+15G>A
NM_002528.7(NTHL1):c.685+15del
NM_002528.7(NTHL1):c.685+18G>C
NM_002528.7(NTHL1):c.685+19G>T
NM_002528.7(NTHL1):c.685+8G>A rs772628458
NM_002528.7(NTHL1):c.685+8G>T
NM_002528.7(NTHL1):c.685+9A>G rs1596219225
NM_002528.7(NTHL1):c.686-11C>A
NM_002528.7(NTHL1):c.686-11C>T rs917169108
NM_002528.7(NTHL1):c.686-16C>T
NM_002528.7(NTHL1):c.686-17G>A rs779450940
NM_002528.7(NTHL1):c.686-17G>C rs779450940
NM_002528.7(NTHL1):c.686-18C>A rs995139097
NM_002528.7(NTHL1):c.686-19C>T
NM_002528.7(NTHL1):c.686-5A>G rs2150938463
NM_002528.7(NTHL1):c.686-6C>T rs2084244873
NM_002528.7(NTHL1):c.686-8C>T rs962601232
NM_002528.7(NTHL1):c.686-9T>C rs1213514224
NM_002528.7(NTHL1):c.690G>C (p.Val230=) rs756156987
NM_002528.7(NTHL1):c.693C>T (p.Asp231=) rs750490014
NM_002528.7(NTHL1):c.696G>C (p.Thr232=) rs560239348
NM_002528.7(NTHL1):c.696G>T (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>A (p.Thr2=)
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.702G>T (p.Val234=) rs2150938422
NM_002528.7(NTHL1):c.705C>T (p.His235=) rs992194912
NM_002528.7(NTHL1):c.720G>A (p.Arg240=) rs2084243484
NM_002528.7(NTHL1):c.721C>T (p.Leu241=)
NM_002528.7(NTHL1):c.723G>A (p.Leu241=) rs2150938377
NM_002528.7(NTHL1):c.724A>C (p.Arg242=)
NM_002528.7(NTHL1):c.72T>C (p.Cys24=) rs1265227121
NM_002528.7(NTHL1):c.732C>A (p.Thr244=) rs1249284600
NM_002528.7(NTHL1):c.738G>A (p.Lys246=) rs2150938344
NM_002528.7(NTHL1):c.73A>C (p.Arg25=)
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.759G>A (p.Glu253=) rs1342987313
NM_002528.7(NTHL1):c.762C>A (p.Thr254=) rs1460930699
NM_002528.7(NTHL1):c.762C>G (p.Thr254=) rs1460930699
NM_002528.7(NTHL1):c.768C>A (p.Ala256=) rs781469017
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.777G>A (p.Glu259=) rs1596216334
NM_002528.7(NTHL1):c.780G>A (p.Glu260=) rs2233523
NM_002528.7(NTHL1):c.786G>A (p.Leu262=) rs2150938192
NM_002528.7(NTHL1):c.786G>T (p.Leu262=)
NM_002528.7(NTHL1):c.789T>C (p.Pro263=) rs964969130
NM_002528.7(NTHL1):c.789T>G (p.Pro263=) rs964969130
NM_002528.7(NTHL1):c.791+10T>C rs564181825
NM_002528.7(NTHL1):c.791+12T>G
NM_002528.7(NTHL1):c.791+13G>C rs773931134
NM_002528.7(NTHL1):c.791+13G>T rs773931134
NM_002528.7(NTHL1):c.791+15G>T
NM_002528.7(NTHL1):c.791+16G>A rs1389536037
NM_002528.7(NTHL1):c.791+16G>C rs1389536037
NM_002528.7(NTHL1):c.791+17G>A rs768211947
NM_002528.7(NTHL1):c.791+18G>A
NM_002528.7(NTHL1):c.791+18del
NM_002528.7(NTHL1):c.791+7G>C
NM_002528.7(NTHL1):c.791+9A>T
NM_002528.7(NTHL1):c.792-10_792-8del
NM_002528.7(NTHL1):c.792-11C>A rs1297891665
NM_002528.7(NTHL1):c.792-11C>T rs1297891665
NM_002528.7(NTHL1):c.792-12C>T
NM_002528.7(NTHL1):c.792-13C>A
NM_002528.7(NTHL1):c.792-13C>G
NM_002528.7(NTHL1):c.792-14C>T rs1483582201
NM_002528.7(NTHL1):c.792-16_792-11dup rs2150938019
NM_002528.7(NTHL1):c.792-19C>T rs555400420
NM_002528.7(NTHL1):c.792-20C>A
NM_002528.7(NTHL1):c.792-3C>T rs3087467
NM_002528.7(NTHL1):c.792-5C>A
NM_002528.7(NTHL1):c.792-5C>T rs2150937995
NM_002528.7(NTHL1):c.792-6C>A rs766881122
NM_002528.7(NTHL1):c.792-7C>A rs1596216178
NM_002528.7(NTHL1):c.792-7C>T rs1596216178
NM_002528.7(NTHL1):c.792-9C>A rs200714075
NM_002528.7(NTHL1):c.795G>A (p.Glu265=) rs2150937978
NM_002528.7(NTHL1):c.796C>T (p.Leu266=)
NM_002528.7(NTHL1):c.798G>A (p.Leu266=)
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.819C>G (p.Leu273=) rs769544798
NM_002528.7(NTHL1):c.828C>T (p.Gly276=)
NM_002528.7(NTHL1):c.843C>G (p.Thr281=) rs779198160
NM_002528.7(NTHL1):c.846T>C (p.Cys282=) rs1430735660
NM_002528.7(NTHL1):c.84C>T (p.Pro28=) rs1297384015
NM_002528.7(NTHL1):c.852T>C (p.Pro284=)
NM_002528.7(NTHL1):c.861T>C (p.Pro287=)
NM_002528.7(NTHL1):c.873C>G (p.Ala291=)
NM_002528.7(NTHL1):c.87G>C (p.Gly29=) rs775360403
NM_002528.7(NTHL1):c.888C>G (p.Ala296=)
NM_002528.7(NTHL1):c.888C>T (p.Ala296=) rs939564399
NM_002528.7(NTHL1):c.897G>C (p.Pro299=) rs773331581
NM_002528.7(NTHL1):c.897G>T (p.Pro299=) rs773331581
NM_002528.7(NTHL1):c.900C>A (p.Ala300=)
NM_002528.7(NTHL1):c.903C>G (p.Ala301=)
NM_002528.7(NTHL1):c.909T>C (p.Gly303=)
NM_002528.7(NTHL1):c.93C>A (p.Leu31=) rs1171088713
NM_002528.7(NTHL1):c.96G>C (p.Arg32=) rs1596227764

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