ClinVar Miner

List of variants in gene NCF4 studied for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 313
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HGVS dbSNP gnomAD frequency
NM_000631.5(NCF4):c.758+57T>C rs2075939 0.86715
NM_000631.5(NCF4):c.627+34A>G rs2072710 0.65446
NM_000631.5(NCF4):c.528+16A>G rs2072708 0.64364
NM_000631.5(NCF4):c.735C>T (p.Tyr245=) rs2072712 0.12064
NM_000631.5(NCF4):c.69G>A (p.Ser23=) rs10854695 0.04124
NM_000631.5(NCF4):c.63C>T (p.Ala21=) rs34373276 0.02859
NM_000631.5(NCF4):c.470+20G>C rs6000454 0.02766
NM_000631.5(NCF4):c.628-14C>A rs56071149 0.01126
NM_000631.5(NCF4):c.240T>C (p.Ser80=) rs35431748 0.00749
NM_000631.5(NCF4):c.254C>A (p.Thr85Asn) rs112306225 0.00377
NM_000631.5(NCF4):c.343-4A>G rs79312013 0.00347
NM_000631.5(NCF4):c.705C>T (p.Asp235=) rs150656826 0.00205
NM_000631.5(NCF4):c.271+7G>A rs201881905 0.00127
NM_000631.5(NCF4):c.172C>T (p.Arg58Cys) rs143532979 0.00103
NM_000631.5(NCF4):c.478G>A (p.Val160Met) rs150103256 0.00093
NM_000631.5(NCF4):c.647C>T (p.Thr216Met) rs146911421 0.00064
NM_000631.5(NCF4):c.747C>A (p.Ile249=) rs147089818 0.00056
NM_000631.5(NCF4):c.271+6C>T rs200052796 0.00036
NM_000631.5(NCF4):c.384C>T (p.Asp128=) rs144105468 0.00036
NM_000631.5(NCF4):c.458G>A (p.Arg153His) rs35160112 0.00035
NM_000631.5(NCF4):c.923G>A (p.Arg308Gln) rs141160114 0.00027
NM_000631.5(NCF4):c.271+17G>A rs371236295 0.00025
NM_000631.5(NCF4):c.759-7C>A rs146292447 0.00025
NM_000631.5(NCF4):c.27C>T (p.Ala9=) rs372612108 0.00024
NM_000631.5(NCF4):c.50C>T (p.Pro17Leu) rs147322774 0.00021
NM_000631.5(NCF4):c.758+51G>A rs150640467 0.00021
NM_000631.5(NCF4):c.78T>C (p.Ile26=) rs139319252 0.00019
NM_000631.5(NCF4):c.528+11C>A rs375032114 0.00018
NM_000631.5(NCF4):c.758+32G>A rs148129899 0.00017
NM_000631.5(NCF4):c.359C>T (p.Pro120Leu) rs760441596 0.00016
NM_000631.5(NCF4):c.270A>T (p.Pro90=) rs370754874 0.00015
NM_000631.5(NCF4):c.456G>A (p.Pro152=) rs554368196 0.00013
NM_000631.5(NCF4):c.390G>A (p.Arg130=) rs199642717 0.00011
NM_000631.5(NCF4):c.758+50C>T rs201021542 0.00011
NM_000631.5(NCF4):c.342+16G>A rs769933291 0.00010
NM_000631.5(NCF4):c.179G>A (p.Arg60His) rs369847561 0.00008
NM_000631.5(NCF4):c.344G>A (p.Ser115Asn) rs567656365 0.00007
NM_000631.5(NCF4):c.451C>T (p.Arg151Cys) rs150976323 0.00007
NM_000631.5(NCF4):c.74A>G (p.Asn25Ser) rs573525247 0.00007
NM_000631.5(NCF4):c.759-48C>T rs200504193 0.00007
NM_000631.5(NCF4):c.774G>A (p.Glu258=) rs1168483867 0.00007
NM_000631.5(NCF4):c.28G>A (p.Glu10Lys) rs756372095 0.00006
NM_000631.5(NCF4):c.306C>T (p.Ala102=) rs34072404 0.00006
NM_000631.5(NCF4):c.32+10G>A rs529996027 0.00006
NM_000631.5(NCF4):c.33-6G>A rs200865261 0.00006
NM_000631.5(NCF4):c.528+10G>A rs761240184 0.00006
NM_000631.5(NCF4):c.529-13C>T rs749683166 0.00006
NM_000631.5(NCF4):c.638G>A (p.Arg213Gln) rs376569226 0.00006
NM_000631.5(NCF4):c.758+38C>T rs141914454 0.00006
NM_000631.5(NCF4):c.759-1G>C rs200347935 0.00006
NM_000631.5(NCF4):c.796C>T (p.Leu266=) rs374646787 0.00006
NM_000631.5(NCF4):c.118-1G>A rs28445840 0.00005
NM_000631.5(NCF4):c.145G>A (p.Gly49Arg) rs148715332 0.00005
NM_000631.5(NCF4):c.23G>A (p.Arg8Gln) rs762576326 0.00005
NM_000631.5(NCF4):c.343-13C>G rs370200398 0.00005
NM_000631.5(NCF4):c.471-9T>C rs765278988 0.00005
NM_000631.5(NCF4):c.798A>G (p.Leu266=) rs752651381 0.00005
NM_000631.5(NCF4):c.314G>A (p.Arg105Gln) rs387906808 0.00004
NM_000631.5(NCF4):c.33-7C>T rs762488939 0.00004
NM_000631.5(NCF4):c.388C>T (p.Arg130Trp) rs868444265 0.00004
NM_000631.5(NCF4):c.528+7C>T rs1486869326 0.00004
NM_000631.5(NCF4):c.648G>A (p.Thr216=) rs190625962 0.00004
NM_000631.5(NCF4):c.670G>A (p.Val224Met) rs200068754 0.00004
NM_000631.5(NCF4):c.129C>T (p.Ile43=) rs753635134 0.00003
NM_000631.5(NCF4):c.33-3C>T rs759545797 0.00003
NM_000631.5(NCF4):c.330C>T (p.Asn110=) rs373828331 0.00003
NM_000631.5(NCF4):c.343-8C>T rs759435967 0.00003
NM_000631.5(NCF4):c.759-96G>A rs759148716 0.00003
NM_000631.5(NCF4):c.766G>A (p.Ala256Thr) rs773520052 0.00003
NM_000631.5(NCF4):c.143_152dup (p.Lys52fs) rs869025585 0.00002
NM_000631.5(NCF4):c.170G>A (p.Arg57His) rs746353194 0.00002
NM_000631.5(NCF4):c.178C>T (p.Arg60Cys) rs183179978 0.00002
NM_000631.5(NCF4):c.219C>T (p.Phe73=) rs373041130 0.00002
NM_000631.5(NCF4):c.267C>A (p.Leu89=) rs748376366 0.00002
NM_000631.5(NCF4):c.282C>T (p.Tyr94=) rs771129807 0.00002
NM_000631.5(NCF4):c.303C>T (p.Ile101=) rs746977479 0.00002
NM_000631.5(NCF4):c.477C>T (p.Ser159=) rs752773971 0.00002
NM_000631.5(NCF4):c.529-2A>T rs199890705 0.00002
NM_000631.5(NCF4):c.605G>A (p.Arg202Gln) rs35355915 0.00002
NM_000631.5(NCF4):c.676A>C (p.Ile226Leu) rs368429862 0.00002
NM_000631.5(NCF4):c.702C>T (p.Asp234=) rs745954906 0.00002
NM_000631.5(NCF4):c.759-22C>A rs1307425631 0.00002
NM_000631.5(NCF4):c.759-83T>C rs1324623407 0.00002
NM_000631.5(NCF4):c.768G>A (p.Ala256=) rs766525712 0.00002
NM_000631.5(NCF4):c.87C>T (p.Ile29=) rs149998137 0.00002
NM_000631.5(NCF4):c.118-11G>A rs751736931 0.00001
NM_000631.5(NCF4):c.118-16C>T rs1248010203 0.00001
NM_000631.5(NCF4):c.118-8C>T rs761899056 0.00001
NM_000631.5(NCF4):c.180C>T (p.Arg60=) rs762003847 0.00001
NM_000631.5(NCF4):c.215G>A (p.Arg72His) rs1383395509 0.00001
NM_000631.5(NCF4):c.220G>A (p.Gly74Arg) rs766377093 0.00001
NM_000631.5(NCF4):c.22C>T (p.Arg8Trp) rs1488661755 0.00001
NM_000631.5(NCF4):c.272-19G>A rs1939952462 0.00001
NM_000631.5(NCF4):c.304G>A (p.Ala102Thr) rs763938344 0.00001
NM_000631.5(NCF4):c.313C>T (p.Arg105Trp) rs756948322 0.00001
NM_000631.5(NCF4):c.32+20C>T rs1439015935 0.00001
NM_000631.5(NCF4):c.32+9C>A rs377217264 0.00001
NM_000631.5(NCF4):c.337A>G (p.Met113Val) rs1250482128 0.00001
NM_000631.5(NCF4):c.342+4C>G rs777266078 0.00001
NM_000631.5(NCF4):c.361G>A (p.Val121Ile) rs759148798 0.00001
NM_000631.5(NCF4):c.363C>T (p.Val121=) rs752127204 0.00001
NM_000631.5(NCF4):c.397T>C (p.Phe133Leu) rs1243354458 0.00001
NM_000631.5(NCF4):c.407C>T (p.Ser136Leu) rs749322339 0.00001
NM_000631.5(NCF4):c.409C>T (p.Pro137Ser) rs1160758215 0.00001
NM_000631.5(NCF4):c.442C>T (p.Arg148Cys) rs770577417 0.00001
NM_000631.5(NCF4):c.457C>T (p.Arg153Cys) rs572795915 0.00001
NM_000631.5(NCF4):c.463C>G (p.Arg155Gly) rs758154907 0.00001
NM_000631.5(NCF4):c.499G>A (p.Val167Ile) rs745490664 0.00001
NM_000631.5(NCF4):c.505C>T (p.Arg169Cys) rs1422597452 0.00001
NM_000631.5(NCF4):c.518C>T (p.Pro173Leu) rs1315752767 0.00001
NM_000631.5(NCF4):c.51G>A (p.Pro17=) rs139289225 0.00001
NM_000631.5(NCF4):c.528+9C>T rs773758945 0.00001
NM_000631.5(NCF4):c.544A>C (p.Thr182Pro) rs1168414742 0.00001
NM_000631.5(NCF4):c.553A>G (p.Ser185Gly) rs766040731 0.00001
NM_000631.5(NCF4):c.58G>A (p.Val20Ile) rs575470394 0.00001
NM_000631.5(NCF4):c.627+15G>C rs776635269 0.00001
NM_000631.5(NCF4):c.628-3C>T rs920454179 0.00001
NM_000631.5(NCF4):c.655T>C (p.Phe219Leu) rs761212596 0.00001
NM_000631.5(NCF4):c.703G>A (p.Asp235Asn) rs867342643 0.00001
NM_000631.5(NCF4):c.743C>T (p.Thr248Ile) rs548576102 0.00001
NM_000631.5(NCF4):c.758+118G>A rs1156468775 0.00001
NM_000631.5(NCF4):c.758+24C>T rs749287293 0.00001
NM_000631.5(NCF4):c.758+46C>T rs1940179345 0.00001
NM_000631.5(NCF4):c.758+85C>G rs1344589085 0.00001
NM_000631.5(NCF4):c.759-101T>C rs200848048 0.00001
NM_000631.5(NCF4):c.759-8C>A rs369565034 0.00001
NM_000631.5(NCF4):c.759-97C>T rs1940182719 0.00001
NM_000631.5(NCF4):c.799T>C (p.Leu267=) rs139432640 0.00001
NM_000631.5(NCF4):c.85A>C (p.Ile29Leu) rs1939858000 0.00001
NM_000631.5(NCF4):c.908T>G (p.Val303Gly) rs762012398 0.00001
NM_000631.5(NCF4):c.90G>A (p.Glu30=) rs200822582 0.00001
NC_000022.11:g.(?_36864025)_(36870562_?)del
NC_000022.11:g.36864921_36864935del rs1200078508
NM_000631.5(NCF4):c.101G>C (p.Gly34Ala)
NM_000631.5(NCF4):c.101G>T (p.Gly34Val) rs766859628
NM_000631.5(NCF4):c.106A>C (p.Thr36Pro) rs200818199
NM_000631.5(NCF4):c.107C>T (p.Thr36Ile)
NM_000631.5(NCF4):c.111C>A (p.Ser37Arg) rs1939860899
NM_000631.5(NCF4):c.117+14C>G
NM_000631.5(NCF4):c.117+18T>A
NM_000631.5(NCF4):c.117+19C>T rs760778895
NM_000631.5(NCF4):c.117+20C>T rs2145703054
NM_000631.5(NCF4):c.118-10T>C rs2145704811
NM_000631.5(NCF4):c.118-16C>A
NM_000631.5(NCF4):c.118-23_118-13del
NM_000631.5(NCF4):c.118-6_118-4del
NM_000631.5(NCF4):c.122T>A (p.Phe41Tyr) rs1601547189
NM_000631.5(NCF4):c.124G>C (p.Val42Leu) rs371578849
NM_000631.5(NCF4):c.126C>A (p.Val42=)
NM_000631.5(NCF4):c.129C>A (p.Ile43=) rs753635134
NM_000631.5(NCF4):c.132G>A (p.Glu44=)
NM_000631.5(NCF4):c.143_152del (p.Lys48fs) rs876657377
NM_000631.5(NCF4):c.164T>C (p.Ile55Thr) rs932330052
NM_000631.5(NCF4):c.170G>T (p.Arg57Leu) rs746353194
NM_000631.5(NCF4):c.18G>A (p.Gln6=) rs2145696469
NM_000631.5(NCF4):c.201C>T (p.Ser67=) rs750743658
NM_000631.5(NCF4):c.204G>A (p.Lys68=) rs2145705120
NM_000631.5(NCF4):c.217T>G (p.Phe73Val) rs1292900352
NM_000631.5(NCF4):c.220G>C (p.Gly74Arg)
NM_000631.5(NCF4):c.222G>A (p.Gly74=) rs377510654
NM_000631.5(NCF4):c.222G>C (p.Gly74=) rs377510654
NM_000631.5(NCF4):c.222G>T (p.Gly74=)
NM_000631.5(NCF4):c.228C>T (p.Asp76=) rs188209920
NM_000631.5(NCF4):c.229A>G (p.Ser77Gly) rs777426455
NM_000631.5(NCF4):c.247G>A (p.Ala83Thr) rs2145705264
NM_000631.5(NCF4):c.248C>A (p.Ala83Asp) rs1939892766
NM_000631.5(NCF4):c.256C>G (p.Leu86Val) rs1939893335
NM_000631.5(NCF4):c.256del (p.Leu86fs)
NM_000631.5(NCF4):c.258G>A (p.Leu86=)
NM_000631.5(NCF4):c.260C>T (p.Pro87Leu)
NM_000631.5(NCF4):c.26C>G (p.Ala9Gly)
NM_000631.5(NCF4):c.270_271+16del rs1939893821
NM_000631.5(NCF4):c.271+16C>T
NM_000631.5(NCF4):c.271+9C>T
NM_000631.5(NCF4):c.272-12G>T
NM_000631.5(NCF4):c.272-14_272-13del rs756236907
NM_000631.5(NCF4):c.272-19G>C
NM_000631.5(NCF4):c.272-7_272-6del rs2145710116
NM_000631.5(NCF4):c.272-8C>A
NM_000631.5(NCF4):c.279C>T (p.Val93=)
NM_000631.5(NCF4):c.280T>C (p.Tyr94His) rs2145710159
NM_000631.5(NCF4):c.283G>A (p.Val95Met)
NM_000631.5(NCF4):c.301A>G (p.Ile101Val)
NM_000631.5(NCF4):c.307G>A (p.Glu103Lys)
NM_000631.5(NCF4):c.30G>A (p.Glu10=) rs1601543664
NM_000631.5(NCF4):c.311T>C (p.Met104Thr) rs1298026448
NM_000631.5(NCF4):c.32+1258T>C rs4821544
NM_000631.5(NCF4):c.32+13G>T
NM_000631.5(NCF4):c.32+2T>G rs1601543670
NM_000631.5(NCF4):c.32+3G>A rs1168349983
NM_000631.5(NCF4):c.33-1G>A rs2145702588
NM_000631.5(NCF4):c.33-6G>T rs200865261
NM_000631.5(NCF4):c.330C>A (p.Asn110Lys)
NM_000631.5(NCF4):c.331_333dup (p.Ala111dup) rs2145710334
NM_000631.5(NCF4):c.342+12C>T
NM_000631.5(NCF4):c.343-15G>C
NM_000631.5(NCF4):c.348G>A (p.Leu116=)
NM_000631.5(NCF4):c.367del (p.Val123fs)
NM_000631.5(NCF4):c.369G>A (p.Val123=)
NM_000631.5(NCF4):c.408G>A (p.Ser136=)
NM_000631.5(NCF4):c.411C>T (p.Pro137=)
NM_000631.5(NCF4):c.41A>G (p.Glu14Gly)
NM_000631.5(NCF4):c.421G>C (p.Glu141Gln) rs748172203
NM_000631.5(NCF4):c.429G>T (p.Val143=) rs771758194
NM_000631.5(NCF4):c.443G>A (p.Arg148His)
NM_000631.5(NCF4):c.444C>A (p.Arg148=)
NM_000631.5(NCF4):c.446G>A (p.Arg149Gln)
NM_000631.5(NCF4):c.456G>T (p.Pro152=) rs554368196
NM_000631.5(NCF4):c.456del (p.Arg153fs)
NM_000631.5(NCF4):c.459C>T (p.Arg153=)
NM_000631.5(NCF4):c.463C>A (p.Arg155=) rs758154907
NM_000631.5(NCF4):c.464G>A (p.Arg155Gln) rs1177795580
NM_000631.5(NCF4):c.470+5G>A
NM_000631.5(NCF4):c.470+7G>T rs2145716668
NM_000631.5(NCF4):c.471-17del
NM_000631.5(NCF4):c.471-1G>A
NM_000631.5(NCF4):c.485C>T (p.Pro162Leu) rs1940057945
NM_000631.5(NCF4):c.489G>A (p.Gln163=)
NM_000631.5(NCF4):c.498C>T (p.Ser166=)
NM_000631.5(NCF4):c.504C>A (p.Asp168Glu) rs1387007679
NM_000631.5(NCF4):c.506G>A (p.Arg169His) rs371308317
NM_000631.5(NCF4):c.508A>G (p.Met170Val)
NM_000631.5(NCF4):c.51G>T (p.Pro17=)
NM_000631.5(NCF4):c.522A>C (p.Arg174Ser)
NM_000631.5(NCF4):c.526G>C (p.Glu176Gln)
NM_000631.5(NCF4):c.528+15_528+16inv
NM_000631.5(NCF4):c.528+17C>A rs36099901
NM_000631.5(NCF4):c.528+18G>A
NM_000631.5(NCF4):c.528+18G>C rs6000455
NM_000631.5(NCF4):c.529-12G>A
NM_000631.5(NCF4):c.529-18C>T
NM_000631.5(NCF4):c.539A>C (p.Asp180Ala) rs1601553436
NM_000631.5(NCF4):c.543C>T (p.Phe181=)
NM_000631.5(NCF4):c.549A>C (p.Gly183=)
NM_000631.5(NCF4):c.549A>G (p.Gly183=)
NM_000631.5(NCF4):c.562G>C (p.Glu188Gln) rs1569114734
NM_000631.5(NCF4):c.566T>C (p.Leu189Pro)
NM_000631.5(NCF4):c.578C>G (p.Ala193Gly)
NM_000631.5(NCF4):c.57T>C (p.Asp19=) rs2145702686
NM_000631.5(NCF4):c.585T>C (p.Asp195=)
NM_000631.5(NCF4):c.586G>A (p.Val196Met) rs753529855
NM_000631.5(NCF4):c.596T>C (p.Leu199Pro) rs1248017342
NM_000631.5(NCF4):c.604C>T (p.Arg202Trp) rs138411102
NM_000631.5(NCF4):c.614_615del (p.Lys205fs)
NM_000631.5(NCF4):c.617A>G (p.Asp206Gly)
NM_000631.5(NCF4):c.619T>C (p.Trp207Arg)
NM_000631.5(NCF4):c.621G>T (p.Trp207Cys)
NM_000631.5(NCF4):c.627+22_627+33dup rs1372067743
NM_000631.5(NCF4):c.627+9A>G
NM_000631.5(NCF4):c.628-3C>G rs920454179
NM_000631.5(NCF4):c.641G>A (p.Gly214Glu) rs1250298096
NM_000631.5(NCF4):c.648G>C (p.Thr216=)
NM_000631.5(NCF4):c.659C>T (p.Pro220Leu)
NM_000631.5(NCF4):c.665C>T (p.Ser222Phe) rs754272966
NM_000631.5(NCF4):c.666C>A (p.Ser222=) rs1601556243
NM_000631.5(NCF4):c.669C>T (p.Phe223=)
NM_000631.5(NCF4):c.68C>T (p.Ser23Leu) rs1001835888
NM_000631.5(NCF4):c.69G>T (p.Ser23=)
NM_000631.5(NCF4):c.705C>A (p.Asp235Glu) rs150656826
NM_000631.5(NCF4):c.716G>A (p.Trp239Ter) rs1940176752
NM_000631.5(NCF4):c.722G>A (p.Arg241His) rs575016108
NM_000631.5(NCF4):c.739G>A (p.Asp247Asn) rs893324789
NM_000631.5(NCF4):c.750C>T (p.Ser250=)
NM_000631.5(NCF4):c.758+106C>T
NM_000631.5(NCF4):c.758+110G>A
NM_000631.5(NCF4):c.758+117A>G
NM_000631.5(NCF4):c.758+12G>C rs756196818
NM_000631.5(NCF4):c.758+16G>A
NM_000631.5(NCF4):c.758+17G>C
NM_000631.5(NCF4):c.758+23G>A
NM_000631.5(NCF4):c.758+28_758+29insA
NM_000631.5(NCF4):c.758+2T>G rs2145726846
NM_000631.5(NCF4):c.758+34C>T
NM_000631.5(NCF4):c.758+36_758+81del
NM_000631.5(NCF4):c.758+39T>A rs532148733
NM_000631.5(NCF4):c.758+39T>C
NM_000631.5(NCF4):c.758+48T>C
NM_000631.5(NCF4):c.758+57_758+58inv
NM_000631.5(NCF4):c.758+60C>T rs764531129
NM_000631.5(NCF4):c.758+62C>T rs944647165
NM_000631.5(NCF4):c.758+64C>T
NM_000631.5(NCF4):c.758+67A>G
NM_000631.5(NCF4):c.758+69C>T rs1940180265
NM_000631.5(NCF4):c.758+70A>G rs1940180317
NM_000631.5(NCF4):c.758+84C>G
NM_000631.5(NCF4):c.758+87T>G rs750700271
NM_000631.5(NCF4):c.759-121C>T
NM_000631.5(NCF4):c.759-19C>T
NM_000631.5(NCF4):c.759-20C>A
NM_000631.5(NCF4):c.759-20C>G
NM_000631.5(NCF4):c.759-24T>G
NM_000631.5(NCF4):c.759-25T>C rs1408073733
NM_000631.5(NCF4):c.759-38G>A
NM_000631.5(NCF4):c.759-40C>T
NM_000631.5(NCF4):c.759-43T>C
NM_000631.5(NCF4):c.759-49C>T rs766613420
NM_000631.5(NCF4):c.759-58C>G rs750610795
NM_000631.5(NCF4):c.759-58C>T
NM_000631.5(NCF4):c.759-65T>C rs1940183687
NM_000631.5(NCF4):c.759-67C>T
NM_000631.5(NCF4):c.759-6C>A rs202038330
NM_000631.5(NCF4):c.759-6C>G
NM_000631.5(NCF4):c.759-71T>C
NM_000631.5(NCF4):c.759-7C>G rs146292447
NM_000631.5(NCF4):c.759-84C>T rs1940183132
NM_000631.5(NCF4):c.759-88T>C
NM_000631.5(NCF4):c.759-98A>T rs2145727217
NM_000631.5(NCF4):c.767C>T (p.Ala256Val)
NM_000631.5(NCF4):c.780T>G (p.Asp260Glu)
NM_000631.5(NCF4):c.793C>T (p.Pro265Ser)
NM_000631.5(NCF4):c.87C>A (p.Ile29=) rs149998137
NM_000631.5(NCF4):c.88G>A (p.Glu30Lys)
NM_000631.5(NCF4):c.94A>G (p.Lys32Glu) rs2145702819

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