ClinVar Miner

List of variants reported as likely benign for immune system disorder by Genome-Nilou Lab

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 425
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.*267G>A rs2741918 0.58813
NM_000543.5(SMPD1):c.1487-36C>T rs11601088 0.10436
NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr) rs35274867 0.01982
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys) rs17843865 0.01046
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr) rs11466045 0.01021
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_000186.4(CFH):c.2634C>T (p.His878=) rs35292876 0.00829
NM_000243.3(MEFV):c.1503C>T (p.Arg501=) rs76464258 0.00733
NM_000271.5(NPC1):c.2661G>A (p.Pro887=) rs9949660 0.00711
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile) rs138127778 0.00637
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly) rs113671330 0.00608
NM_000051.4(ATM):c.*29C>G rs3218711 0.00603
NM_000243.3(MEFV):c.1760-97G>A rs11466044 0.00589
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_000243.3(MEFV):c.2163C>T (p.Phe721=) rs11466047 0.00484
NM_000243.3(MEFV):c.1356+31G>T rs142775938 0.00459
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_000186.4(CFH):c.3050C>T (p.Thr1017Ile) rs34362004 0.00426
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869 0.00421
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239 0.00399
NM_000243.3(MEFV):c.333G>A (p.Gly111=) rs61732425 0.00339
NM_000243.3(MEFV):c.1759+8C>T rs77380520 0.00321
NM_001006658.3(CR2):c.2611G>T (p.Val871Leu) rs144572703 0.00319
NM_001111.5(ADAR):c.2553C>T (p.Cys851=) rs138927668 0.00304
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_001164277.2(SLC37A4):c.968C>T (p.Thr323Ile) rs202209699 0.00273
NM_000243.3(MEFV):c.1587+18C>T rs11466030 0.00248
NM_001111.5(ADAR):c.1003A>T (p.Ile335Phe) rs34154757 0.00235
NM_152564.5(VPS13B):c.10744A>G (p.Ile3582Val) rs145547375 0.00215
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_001025603.2(RFX5):c.1379G>A (p.Ser460Asn) rs142053610 0.00167
NM_152564.5(VPS13B):c.5905A>G (p.Ile1969Val) rs139640224 0.00154
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=) rs138661755 0.00144
NM_004629.2(FANCG):c.20C>T (p.Ser7Phe) rs35984312 0.00138
NM_001111.5(ADAR):c.1926T>C (p.His642=) rs150171059 0.00135
NM_000186.4(CFH):c.1707C>T (p.Cys569=) rs144976181 0.00129
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292 0.00125
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109 0.00116
NM_001006658.3(CR2):c.1458T>C (p.Phe486=) rs147378770 0.00115
NM_001111.5(ADAR):c.1935-19G>A rs200651742 0.00101
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=) rs139436386 0.00072
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_006939.4(SOS2):c.3614C>T (p.Pro1205Leu) rs113660113 0.00071
NM_000186.4(CFH):c.2509G>A (p.Val837Ile) rs55807605 0.00050
NM_000186.4(CFH):c.2637A>G (p.Gly879=) rs55752475 0.00050
NM_000243.3(MEFV):c.1151T>C (p.Leu384Pro) rs139313647 0.00047
NM_006939.4(SOS2):c.3250A>G (p.Thr1084Ala) rs150752193 0.00045
NM_001006658.3(CR2):c.1152C>T (p.Thr384=) rs145709085 0.00041
NM_006939.4(SOS2):c.2317G>C (p.Asp773His) rs114711076 0.00041
NM_006939.4(SOS2):c.3744G>T (p.Trp1248Cys) rs138133010 0.00041
NM_006939.4(SOS2):c.969+20T>G rs559272877 0.00041
NM_006939.4(SOS2):c.1521G>T (p.Glu507Asp) rs141604342 0.00040
NM_000186.4(CFH):c.2821G>T (p.Val941Phe) rs529491401 0.00039
NM_001111.5(ADAR):c.772G>A (p.Gly258Arg) rs201143561 0.00039
NM_000186.4(CFH):c.245-8C>T rs537160602 0.00038
NM_006939.4(SOS2):c.3503C>A (p.Ser1168Tyr) rs143166880 0.00038
NM_000243.3(MEFV):c.1344A>C (p.Ala448=) rs143337771 0.00034
NM_001006658.3(CR2):c.2747C>T (p.Thr916Ile) rs61754517 0.00033
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=) rs141637316 0.00030
NM_000186.4(CFH):c.3172T>C (p.Tyr1058His) rs55679475 0.00029
NM_000186.4(CFH):c.3178G>C (p.Val1060Leu) rs55771831 0.00029
NM_000243.3(MEFV):c.1827C>G (p.Pro609=) rs104895135 0.00029
NM_000243.3(MEFV):c.231C>A (p.Ile77=) rs139899201 0.00029
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266 0.00029
NM_006939.4(SOS2):c.294A>G (p.Lys98=) rs149713664 0.00027
NM_000243.3(MEFV):c.1677C>T (p.Leu559=) rs144672997 0.00024
NM_000243.3(MEFV):c.1795A>G (p.Asn599Asp) rs104895210 0.00021
NM_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=) rs144654282 0.00021
NM_004629.2(FANCG):c.-7G>A rs772036778 0.00020
NM_006939.4(SOS2):c.3769A>G (p.Asn1257Asp) rs150393358 0.00020
NM_006939.4(SOS2):c.2010A>G (p.Ala670=) rs147081547 0.00019
NM_000243.3(MEFV):c.656G>A (p.Gly219Asp) rs752973530 0.00018
NM_005633.4(SOS1):c.1489C>A (p.Arg497=) rs542368621 0.00018
NM_001025603.2(RFX5):c.1569G>A (p.Glu523=) rs137968641 0.00016
NM_006939.4(SOS2):c.599A>G (p.Tyr200Cys) rs148595463 0.00016
NM_000243.3(MEFV):c.1261-28A>G rs104895140 0.00015
NM_000022.4(ADA):c.591T>A (p.His197Gln) rs142456343 0.00014
NM_000243.3(MEFV):c.1528G>A (p.Asp510Asn) rs200557537 0.00014
NM_000243.3(MEFV):c.1770G>A (p.Leu590=) rs139692347 0.00014
NM_001111.5(ADAR):c.1725C>T (p.Ala575=) rs144279106 0.00014
NM_005633.4(SOS1):c.1962G>A (p.Glu654=) rs144382701 0.00014
NM_005633.4(SOS1):c.1668A>C (p.Val556=) rs376314461 0.00013
NM_006939.4(SOS2):c.195G>A (p.Arg65=) rs1803661 0.00013
NM_006939.4(SOS2):c.2328A>G (p.Thr776=) rs116162949 0.00013
NM_000243.3(MEFV):c.1171G>A (p.Asp391Asn) rs764274816 0.00011
NM_000243.3(MEFV):c.1341G>C (p.Lys447Asn) rs756322372 0.00011
NM_000243.3(MEFV):c.1522C>G (p.Leu508Val) rs199937453 0.00011
NM_000383.4(AIRE):c.372G>A (p.Pro124=) rs775117249 0.00011
NM_005633.4(SOS1):c.3357C>T (p.Thr1119=) rs373319212 0.00011
NM_001111.5(ADAR):c.222G>A (p.Arg74=) rs150423721 0.00010
NM_005633.4(SOS1):c.1269C>T (p.Asn423=) rs138459502 0.00010
NM_005633.4(SOS1):c.1566T>C (p.Asn522=) rs145325119 0.00010
NM_006939.4(SOS2):c.3088A>G (p.Thr1030Ala) rs550680554 0.00010
NM_000186.4(CFH):c.3318A>G (p.Thr1106=) rs1137971 0.00009
NM_000243.3(MEFV):c.959G>C (p.Gly320Ala) rs374412819 0.00009
NM_005633.4(SOS1):c.2510+19C>G rs375675348 0.00009
NM_006939.4(SOS2):c.3066A>G (p.Pro1022=) rs201696354 0.00009
NM_000243.3(MEFV):c.765A>G (p.Ala255=) rs771714168 0.00008
NM_006939.4(SOS2):c.3729C>T (p.His1243=) rs761917783 0.00008
NM_000243.3(MEFV):c.1996A>T (p.Ile666Phe) rs387907566 0.00007
NM_005633.4(SOS1):c.1854C>T (p.Tyr618=) rs727505181 0.00007
NM_000022.4(ADA):c.375C>G (p.Thr125=) rs766539394 0.00006
NM_000022.4(ADA):c.927G>A (p.Gln309=) rs139871719 0.00006
NM_000186.4(CFH):c.2056+16T>C rs777352172 0.00006
NM_000186.4(CFH):c.245-17T>A rs775088366 0.00006
NM_000243.3(MEFV):c.116G>A (p.Arg39Lys) rs141288548 0.00006
NM_000243.3(MEFV):c.1504G>A (p.Val502Ile) rs140462252 0.00006
NM_000243.3(MEFV):c.1610+8G>A rs765410591 0.00006
NM_000243.3(MEFV):c.289C>T (p.Gln97Ter) rs747515115 0.00006
NM_000243.3(MEFV):c.866C>T (p.Ala289Val) rs104895132 0.00006
NM_001006658.3(CR2):c.276T>G (p.Pro92=) rs371546344 0.00006
NM_001111.5(ADAR):c.57C>T (p.Gly19=) rs137983302 0.00006
NM_006939.4(SOS2):c.1198G>A (p.Asp400Asn) rs200368064 0.00006
NM_006939.4(SOS2):c.720C>T (p.Ile240=) rs373852615 0.00006
NM_014140.4(SMARCAL1):c.927C>T (p.Ser309=) rs139949668 0.00006
NM_000186.4(CFH):c.2085T>A (p.Pro695=) rs777482186 0.00005
NM_000186.4(CFH):c.59-16T>C rs201067374 0.00005
NM_000243.3(MEFV):c.1406T>C (p.Val469Ala) rs778686119 0.00005
NM_000243.3(MEFV):c.2337G>C (p.Gly779=) rs104895153 0.00005
NM_000243.3(MEFV):c.460T>C (p.Ser154Pro) rs756975501 0.00005
NM_001006658.3(CR2):c.21C>T (p.Leu7=) rs779365020 0.00005
NM_000022.4(ADA):c.21C>T (p.Phe7=) rs925528695 0.00004
NM_000022.4(ADA):c.642C>T (p.His214=) rs562055008 0.00004
NM_000186.4(CFH):c.2236+18A>G rs749643506 0.00004
NM_000186.4(CFH):c.2957-15T>C rs756514818 0.00004
NM_000186.4(CFH):c.964+18C>A rs1258420173 0.00004
NM_000243.3(MEFV):c.1060C>T (p.Arg354Trp) rs104895116 0.00004
NM_000243.3(MEFV):c.1130G>A (p.Arg377His) rs144998416 0.00004
NM_000243.3(MEFV):c.1337A>C (p.Glu446Ala) rs749651486 0.00004
NM_000243.3(MEFV):c.1532C>T (p.Ala511Val) rs144270019 0.00004
NM_000243.3(MEFV):c.1889C>T (p.Pro630Leu) rs376579860 0.00004
NM_000243.3(MEFV):c.1957C>T (p.Arg653Cys) rs375716505 0.00004
NM_000243.3(MEFV):c.202C>T (p.Gln68Ter) rs768473920 0.00004
NM_000243.3(MEFV):c.2109C>T (p.Ser703=) rs104895118 0.00004
NM_000243.3(MEFV):c.2111T>G (p.Val704Gly) rs748891586 0.00004
NM_000243.3(MEFV):c.2117C>T (p.Pro706Leu) rs202174893 0.00004
NM_000243.3(MEFV):c.277G>C (p.Glu93Gln) rs138498376 0.00004
NM_000243.3(MEFV):c.311C>G (p.Ser104Cys) rs151306047 0.00004
NM_000243.3(MEFV):c.611G>A (p.Arg204His) rs775663363 0.00004
NM_000243.3(MEFV):c.775A>G (p.Ile259Val) rs104895144 0.00004
NM_000243.3(MEFV):c.941G>A (p.Arg314His) rs104895204 0.00004
NM_000243.3(MEFV):c.973G>A (p.Gly325Ser) rs146862274 0.00004
NM_001111.5(ADAR):c.2319C>T (p.Cys773=) rs750666914 0.00004
NM_001111.5(ADAR):c.2598C>G (p.Arg866=) rs749389266 0.00004
NM_005633.4(SOS1):c.1095A>G (p.Glu365=) rs767540464 0.00004
NM_005633.4(SOS1):c.1621T>C (p.Leu541=) rs371286473 0.00004
NM_005633.4(SOS1):c.1842G>A (p.Thr614=) rs143750479 0.00004
NM_005633.4(SOS1):c.1905C>T (p.Cys635=) rs762900789 0.00004
NM_005633.4(SOS1):c.3942C>T (p.His1314=) rs778838515 0.00004
NM_006912.6(RIT1):c.231T>C (p.Ala77=) rs144170253 0.00004
NM_006912.6(RIT1):c.291C>A (p.Ile97=) rs377326705 0.00004
NM_006939.4(SOS2):c.147A>G (p.Glu49=) rs1030329651 0.00004
NM_006939.4(SOS2):c.1584T>C (p.Ser528=) rs374642561 0.00004
NM_006939.4(SOS2):c.2220A>C (p.Gln740His) rs576277421 0.00004
NM_006939.4(SOS2):c.644G>A (p.Arg215Gln) rs538341032 0.00004
NM_006939.4(SOS2):c.837C>T (p.Ser279=) rs542617984 0.00004
NM_000186.4(CFH):c.2868G>A (p.Thr956=) rs533238588 0.00003
NM_000243.3(MEFV):c.1066C>G (p.Gln356Glu) rs377754606 0.00003
NM_000243.3(MEFV):c.1179C>T (p.Pro393=) rs104895082 0.00003
NM_000243.3(MEFV):c.1324T>A (p.Ser442Thr) rs779558690 0.00003
NM_000243.3(MEFV):c.1533G>A (p.Ala511=) rs771061550 0.00003
NM_000243.3(MEFV):c.2110G>A (p.Val704Ile) rs104895096 0.00003
NM_000243.3(MEFV):c.2123G>A (p.Arg708His) rs200375017 0.00003
NM_000243.3(MEFV):c.2141C>T (p.Pro714Leu) rs758628487 0.00003
NM_000243.3(MEFV):c.2164G>A (p.Val722Met) rs104895201 0.00003
NM_000243.3(MEFV):c.2263A>G (p.Ile755Val) rs104895194 0.00003
NM_000243.3(MEFV):c.456G>A (p.Gly152=) rs368333568 0.00003
NM_000243.3(MEFV):c.475A>G (p.Ser159Gly) rs797001768 0.00003
NM_000243.3(MEFV):c.489G>T (p.Glu163Asp) rs759997694 0.00003
NM_000243.3(MEFV):c.539C>T (p.Pro180Leu) rs104895134 0.00003
NM_000243.3(MEFV):c.574A>G (p.Arg192Gly) rs745839954 0.00003
NM_001006658.3(CR2):c.2156-16A>C rs777216094 0.00003
NM_001006658.3(CR2):c.621C>T (p.Pro207=) rs573346582 0.00003
NM_001111.5(ADAR):c.642C>T (p.Asp214=) rs781005907 0.00003
NM_005633.4(SOS1):c.66A>G (p.Leu22=) rs770539511 0.00003
NM_005633.4(SOS1):c.9G>A (p.Ala3=) rs566601513 0.00003
NM_006912.6(RIT1):c.498A>C (p.Ala166=) rs375734733 0.00003
NM_006939.4(SOS2):c.1005T>C (p.Tyr335=) rs753698896 0.00003
NM_006939.4(SOS2):c.1356T>C (p.Gly452=) rs746956553 0.00003
NM_006939.4(SOS2):c.2604C>T (p.Gly868=) rs765945171 0.00003
NM_006939.4(SOS2):c.3606T>C (p.Ser1202=) rs539432390 0.00003
NM_006939.4(SOS2):c.3981T>C (p.Asn1327=) rs527576404 0.00003
NM_006939.4(SOS2):c.540C>T (p.Asp180=) rs189555369 0.00003
NM_006939.4(SOS2):c.63A>G (p.Gly21=) rs761849560 0.00003
NM_000136.3(FANCC):c.1414G>A (p.Gly472Arg) rs201063698 0.00002
NM_000186.4(CFH):c.2427A>G (p.Gln809=) rs758809077 0.00002
NM_000186.4(CFH):c.906C>G (p.Thr302=) rs148552495 0.00002
NM_000206.3(IL2RG):c.201C>T (p.Val67=) rs756100347 0.00002
NM_000243.3(MEFV):c.1061G>A (p.Arg354Gln) rs763015849 0.00002
NM_000243.3(MEFV):c.1082G>C (p.Arg361Thr) rs190405488 0.00002
NM_000243.3(MEFV):c.1089C>T (p.Ser363=) rs104895170 0.00002
NM_000243.3(MEFV):c.1099C>G (p.Leu367Val) rs1057519328 0.00002
NM_000243.3(MEFV):c.1735C>T (p.Arg579Cys) rs762605919 0.00002
NM_000243.3(MEFV):c.1759+12G>A rs749730274 0.00002
NM_000243.3(MEFV):c.1898C>T (p.Pro633Leu) rs976279218 0.00002
NM_000243.3(MEFV):c.192G>A (p.Glu64=) rs547393490 0.00002
NM_000243.3(MEFV):c.199G>A (p.Val67Met) rs1422054832 0.00002
NM_000243.3(MEFV):c.2122C>T (p.Arg708Cys) rs104895202 0.00002
NM_000243.3(MEFV):c.2146A>G (p.Lys716Glu) rs746092199 0.00002
NM_000243.3(MEFV):c.239G>A (p.Arg80His) rs201075710 0.00002
NM_000243.3(MEFV):c.265G>A (p.Ala89Thr) rs104895124 0.00002
NM_000243.3(MEFV):c.431G>A (p.Cys144Tyr) rs773320625 0.00002
NM_000243.3(MEFV):c.955G>A (p.Glu319Lys) rs104895110 0.00002
NM_005633.4(SOS1):c.1251A>C (p.Leu417=) rs144027132 0.00002
NM_005633.4(SOS1):c.2007C>G (p.Pro669=) rs529749913 0.00002
NM_005633.4(SOS1):c.3384T>C (p.His1128=) rs1412775460 0.00002
NM_005633.4(SOS1):c.396A>T (p.Ala132=) rs727505385 0.00002
NM_005633.4(SOS1):c.87+12G>T rs368569135 0.00002
NM_006939.4(SOS2):c.1392C>T (p.Gly464=) rs188355135 0.00002
NM_006939.4(SOS2):c.1669T>C (p.Leu557=) rs370600053 0.00002
NM_006939.4(SOS2):c.2049A>G (p.Val683=) rs748361433 0.00002
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn) rs587782506 0.00001
NM_000051.4(ATM):c.8217G>A (p.Leu2739=) rs759069006 0.00001
NM_000186.4(CFH):c.2236+10C>G rs755790229 0.00001
NM_000186.4(CFH):c.2946A>G (p.Pro982=) rs553471643 0.00001
NM_000186.4(CFH):c.849A>G (p.Lys283=) rs771886590 0.00001
NM_000243.3(MEFV):c.1024C>T (p.Pro342Ser) rs774397209 0.00001
NM_000243.3(MEFV):c.1091C>T (p.Pro364Leu) rs104895214 0.00001
NM_000243.3(MEFV):c.1222C>T (p.Arg408Trp) rs758868622 0.00001
NM_000243.3(MEFV):c.1401G>A (p.Glu467=) rs1398639205 0.00001
NM_000243.3(MEFV):c.1485G>A (p.Arg495=) rs1012455878 0.00001
NM_000243.3(MEFV):c.149C>T (p.Pro50Leu) rs144716190 0.00001
NM_000243.3(MEFV):c.1513G>T (p.Asp505Tyr) rs150730718 0.00001
NM_000243.3(MEFV):c.1643C>A (p.Thr548Asn) rs550970304 0.00001
NM_000243.3(MEFV):c.1681C>T (p.His561Tyr) rs952604863 0.00001
NM_000243.3(MEFV):c.1744A>C (p.Met582Leu) rs104895165 0.00001
NM_000243.3(MEFV):c.1780C>T (p.Gln594Ter) rs780770024 0.00001
NM_000243.3(MEFV):c.1899G>A (p.Pro633=) rs776315170 0.00001
NM_000243.3(MEFV):c.2033G>A (p.Gly678Glu) rs104895088 0.00001
NM_000243.3(MEFV):c.2065T>C (p.Trp689Arg) rs566082564 0.00001
NM_000243.3(MEFV):c.2169C>T (p.Asp723=) rs104895117 0.00001
NM_000243.3(MEFV):c.2314A>G (p.Ile772Val) rs104895163 0.00001
NM_000243.3(MEFV):c.233A>G (p.Asn78Ser) rs145015653 0.00001
NM_000243.3(MEFV):c.319T>G (p.Ser107Ala) rs756029520 0.00001
NM_000243.3(MEFV):c.422G>T (p.Ser141Ile) rs104895130 0.00001
NM_000243.3(MEFV):c.426G>C (p.Leu142=) rs1465332482 0.00001
NM_000243.3(MEFV):c.443A>T (p.Glu148Val) rs104895076 0.00001
NM_000243.3(MEFV):c.48G>A (p.Leu16=) rs777381107 0.00001
NM_000243.3(MEFV):c.490A>C (p.Lys164Gln) rs1306636942 0.00001
NM_000243.3(MEFV):c.520A>G (p.Lys174Glu) rs777199024 0.00001
NM_000243.3(MEFV):c.524C>A (p.Pro175His) rs104895126 0.00001
NM_000243.3(MEFV):c.530C>T (p.Thr177Ile) rs104895143 0.00001
NM_000243.3(MEFV):c.536G>A (p.Ser179Asn) rs104895125 0.00001
NM_000243.3(MEFV):c.540G>C (p.Pro180=) rs104895139 0.00001
NM_000243.3(MEFV):c.566G>T (p.Gly189Val) rs923516953 0.00001
NM_000243.3(MEFV):c.608T>C (p.Leu203Pro) rs1959084389 0.00001
NM_000243.3(MEFV):c.68A>G (p.Lys23Arg) rs754679070 0.00001
NM_000243.3(MEFV):c.786T>C (p.Thr262=) rs575521131 0.00001
NM_000243.3(MEFV):c.808A>G (p.Asn270Asp) rs753623518 0.00001
NM_000243.3(MEFV):c.828A>C (p.Glu276Asp) rs775020273 0.00001
NM_000243.3(MEFV):c.839G>A (p.Arg280Lys) rs1437746739 0.00001
NM_000243.3(MEFV):c.848C>T (p.Pro283Leu) rs104895119 0.00001
NM_000243.3(MEFV):c.863C>A (p.Ser288Tyr) rs387907567 0.00001
NM_000243.3(MEFV):c.985C>T (p.Arg329Cys) rs757216434 0.00001
NM_001111.5(ADAR):c.2669-9C>T rs777184958 0.00001
NM_004629.2(FANCG):c.1287C>T (p.Pro429=) rs767253119 0.00001
NM_005633.4(SOS1):c.1191A>G (p.Lys397=) rs770175415 0.00001
NM_005633.4(SOS1):c.1458A>G (p.Ala486=) rs772746896 0.00001
NM_005633.4(SOS1):c.1848T>C (p.His616=) rs1344852617 0.00001
NM_005633.4(SOS1):c.1863C>T (p.Pro621=) rs759125551 0.00001
NM_005633.4(SOS1):c.1956G>A (p.Glu652=) rs1365773428 0.00001
NM_005633.4(SOS1):c.1995T>C (p.Asn665=) rs779262456 0.00001
NM_005633.4(SOS1):c.2454T>C (p.Ser818=) rs748802612 0.00001
NM_005633.4(SOS1):c.2604T>C (p.Phe868=) rs756520305 0.00001
NM_005633.4(SOS1):c.2739G>A (p.Lys913=) rs997339872 0.00001
NM_005633.4(SOS1):c.3033C>T (p.Asn1011=) rs1196614292 0.00001
NM_005633.4(SOS1):c.3060C>T (p.Asn1020=) rs142431345 0.00001
NM_005633.4(SOS1):c.3093T>C (p.Tyr1031=) rs766864647 0.00001
NM_005633.4(SOS1):c.3114T>G (p.Pro1038=) rs777755307 0.00001
NM_005633.4(SOS1):c.3282T>G (p.Gly1094=) rs145357714 0.00001
NM_005633.4(SOS1):c.3438A>G (p.Glu1146=) rs1226908698 0.00001
NM_005633.4(SOS1):c.3504A>G (p.Pro1168=) rs748617507 0.00001
NM_005633.4(SOS1):c.3732T>C (p.His1244=) rs1391583247 0.00001
NM_005633.4(SOS1):c.3795T>G (p.Ser1265=) rs538954728 0.00001
NM_005633.4(SOS1):c.3832T>C (p.Leu1278=) rs750354913 0.00001
NM_005633.4(SOS1):c.3987T>C (p.Asn1329=) rs936986823 0.00001
NM_005633.4(SOS1):c.429G>A (p.Lys143=) rs773264070 0.00001
NM_005633.4(SOS1):c.543A>G (p.Glu181=) rs201068374 0.00001
NM_005633.4(SOS1):c.552T>C (p.Asn184=) rs727503438 0.00001
NM_005633.4(SOS1):c.783C>A (p.Gly261=) rs951992465 0.00001
NM_005633.4(SOS1):c.795T>C (p.Asp265=) rs777745085 0.00001
NM_005633.4(SOS1):c.984C>T (p.Gly328=) rs778223456 0.00001
NM_006912.6(RIT1):c.107-9C>G rs200597833 0.00001
NM_006912.6(RIT1):c.252C>T (p.Ala84=) rs758393035 0.00001
NM_006912.6(RIT1):c.393T>C (p.Leu131=) rs34974790 0.00001
NM_006912.6(RIT1):c.423A>G (p.Leu141=) rs763445246 0.00001
NM_006912.6(RIT1):c.510T>C (p.Tyr170=) rs765624804 0.00001
NM_006912.6(RIT1):c.516T>C (p.Asp172=) rs148764677 0.00001
NM_006912.6(RIT1):c.540G>A (p.Arg180=) rs369738767 0.00001
NM_006912.6(RIT1):c.594G>A (p.Lys198=) rs779457410 0.00001
NM_006912.6(RIT1):c.99G>A (p.Gly33=) rs199914900 0.00001
NM_006939.4(SOS2):c.1059G>A (p.Glu353=) rs1231657921 0.00001
NM_006939.4(SOS2):c.1211C>T (p.Pro404Leu) rs201265921 0.00001
NM_006939.4(SOS2):c.1326C>T (p.Phe442=) rs150365706 0.00001
NM_006939.4(SOS2):c.1446T>C (p.Ser482=) rs1468565433 0.00001
NM_006939.4(SOS2):c.1458C>T (p.Tyr486=) rs199651967 0.00001
NM_006939.4(SOS2):c.1839T>C (p.Tyr613=) rs780152724 0.00001
NM_006939.4(SOS2):c.2184A>C (p.Val728=) rs776046903 0.00001
NM_006939.4(SOS2):c.2253C>T (p.Thr751=) rs1050544302 0.00001
NM_006939.4(SOS2):c.2643A>G (p.Val881=) rs1329137002 0.00001
NM_006939.4(SOS2):c.2916T>C (p.Tyr972=) rs979918396 0.00001
NM_006939.4(SOS2):c.3279A>C (p.Pro1093=) rs780697283 0.00001
NM_006939.4(SOS2):c.3531G>A (p.Pro1177=) rs1248324702 0.00001
NM_006939.4(SOS2):c.3573T>G (p.Val1191=) rs756940411 0.00001
NM_006939.4(SOS2):c.360C>T (p.Tyr120=) rs762044455 0.00001
NM_006939.4(SOS2):c.3774G>A (p.Ser1258=) rs747521589 0.00001
NM_006939.4(SOS2):c.3954A>G (p.Pro1318=) rs751408063 0.00001
NM_006939.4(SOS2):c.396T>C (p.Ala132=) rs774402309 0.00001
NM_006939.4(SOS2):c.3984A>G (p.Ala1328=) rs776266602 0.00001
NM_006939.4(SOS2):c.804T>C (p.Thr268=) rs750437794 0.00001
NM_006939.4(SOS2):c.813C>T (p.Ser271=) rs371598827 0.00001
NM_152564.5(VPS13B):c.9603A>G (p.Gly3201=) rs564362618 0.00001
NM_000022.4(ADA):c.445C>A (p.Arg149=) rs121908733
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile) rs536839082
NM_000186.4(CFH):c.1617T>C (p.Gly539=)
NM_000186.4(CFH):c.1935G>A (p.Thr645=) rs56035657
NM_000186.4(CFH):c.2783-3dup rs748791414
NM_000186.4(CFH):c.318T>C (p.Tyr106=) rs1448752091
NM_000206.3(IL2RG):c.832T>C (p.Cys278Arg) rs2147747335
NM_000243.3(MEFV):c.1005C>T (p.Pro335=) rs567739580
NM_000243.3(MEFV):c.1092G>A (p.Pro364=) rs11466022
NM_000243.3(MEFV):c.1105C>A (p.Pro369Thr) rs11466023
NM_000243.3(MEFV):c.1352T>G (p.Phe451Cys) rs1958986915
NM_000243.3(MEFV):c.1368A>C (p.Glu456Asp) rs1567233429
NM_000243.3(MEFV):c.1405G>T (p.Val469Leu) rs104895173
NM_000243.3(MEFV):c.1432C>T (p.His478Tyr) rs104895105
NM_000243.3(MEFV):c.1459G>A (p.Val487Met) rs104895100
NM_000243.3(MEFV):c.1501C>G (p.Arg501Gly) rs104895101
NM_000243.3(MEFV):c.1622T>C (p.Val541Ala) rs922232615
NM_000243.3(MEFV):c.1685A>G (p.Gln562Arg) rs1033941048
NM_000243.3(MEFV):c.1759+11C>T rs370349451
NM_000243.3(MEFV):c.1773T>G (p.Ile591Met) rs141706767
NM_000243.3(MEFV):c.180C>T (p.Tyr60=) rs371505752
NM_000243.3(MEFV):c.1895G>C (p.Gly632Ala) rs967990798
NM_000243.3(MEFV):c.1957C>A (p.Arg653Ser) rs375716505
NM_000243.3(MEFV):c.201_202delinsTT (p.Gln68Ter) rs1959115695
NM_000243.3(MEFV):c.2024G>A (p.Ser675Asn) rs104895087
NM_000243.3(MEFV):c.2044_2045del (p.Leu682fs) rs1355225244
NM_000243.3(MEFV):c.2068G>C (p.Val690Leu) rs1281153557
NM_000243.3(MEFV):c.2150G>A (p.Arg717His) rs545517350
NM_000243.3(MEFV):c.2150G>T (p.Arg717Leu) rs545517350
NM_000243.3(MEFV):c.2229C>G (p.Phe743Leu) rs104895152
NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys) rs104895171
NM_000243.3(MEFV):c.2271C>T (p.Ser757=) rs772754956
NM_000243.3(MEFV):c.2287G>A (p.Gly763Arg) rs2141664466
NM_000243.3(MEFV):c.2310_2313del (p.Thr771fs) rs757708595
NM_000243.3(MEFV):c.250G>C (p.Glu84Gln) rs150819742
NM_000243.3(MEFV):c.268G>C (p.Ala90Pro) rs376971129
NM_000243.3(MEFV):c.289C>A (p.Gln97Lys) rs747515115
NM_000243.3(MEFV):c.298G>C (p.Gly100Arg) rs772332566
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg) rs104895103
NM_000243.3(MEFV):c.342G>A (p.Lys114=) rs981883034
NM_000243.3(MEFV):c.369C>A (p.His123Gln) rs587783379
NM_000243.3(MEFV):c.378G>T (p.Gly126=) rs777867857
NM_000243.3(MEFV):c.405C>G (p.Tyr135Ter) rs766323718
NM_000243.3(MEFV):c.407G>A (p.Gly136Glu) rs876660989
NM_000243.3(MEFV):c.410del (p.Gly137fs) rs767006697
NM_000243.3(MEFV):c.414A>T (p.Gly138=) rs224224
NM_000243.3(MEFV):c.436C>T (p.Gln146Ter) rs876660990
NM_000243.3(MEFV):c.439C>G (p.Pro147Ala) rs876660991
NM_000243.3(MEFV):c.497C>T (p.Ser166Leu) rs766670643
NM_000243.3(MEFV):c.511G>A (p.Ala171Thr) rs876660993
NM_000243.3(MEFV):c.532C>T (p.Arg178Trp) rs1555459404
NM_000243.3(MEFV):c.547C>A (p.Pro183Thr) rs202196752
NM_000243.3(MEFV):c.548C>T (p.Pro183Leu) rs777009752
NM_000243.3(MEFV):c.564C>G (p.Pro188=) rs775755423
NM_000243.3(MEFV):c.564C>T (p.Pro188=) rs775755423
NM_000243.3(MEFV):c.565_570dup (p.Gly189_Pro190dup) rs761993422
NM_000243.3(MEFV):c.586G>C (p.Gly196Arg) rs104895179
NM_000243.3(MEFV):c.623G>C (p.Ser208Thr) rs759326778
NM_000243.3(MEFV):c.751G>A (p.Glu251Lys) rs104895111
NM_000243.3(MEFV):c.803C>T (p.Ala268Val) rs104895123
NM_000243.3(MEFV):c.848C>G (p.Pro283Arg) rs104895119
NM_000243.3(MEFV):c.933G>A (p.Ala311=) rs774547197
NM_000271.5(NPC1):c.1743G>A (p.Gln581=) rs1234473868
NM_000383.4(AIRE):c.1401-28G>A rs1800526
NM_001006658.3(CR2):c.1104A>T (p.Arg368=) rs1572954261
NM_001006658.3(CR2):c.3189-8_3189-7del rs112859639
NM_001006658.3(CR2):c.624C>A (p.Pro208=) rs61759494
NM_005633.4(SOS1):c.*1606del rs34248802
NM_005633.4(SOS1):c.*2244_*2245dup rs3832123
NM_005633.4(SOS1):c.1035C>G (p.Ala345=) rs557313301
NM_005633.4(SOS1):c.1203-8T>C rs1669853901
NM_005633.4(SOS1):c.1707G>A (p.Leu569=) rs1479407572
NM_005633.4(SOS1):c.2063+44T>C rs111576630
NM_005633.4(SOS1):c.2064-20A>T rs756707478
NM_005633.4(SOS1):c.213+14_213+16del rs768872084
NM_005633.4(SOS1):c.21C>T (p.Pro7=) rs727504845
NM_005633.4(SOS1):c.2517T>C (p.Ile839=) rs776366413
NM_005633.4(SOS1):c.2674-9del rs532594344
NM_005633.4(SOS1):c.2674-9dup rs532594344
NM_005633.4(SOS1):c.273A>G (p.Gln91=) rs914110575
NM_005633.4(SOS1):c.2775A>T (p.Pro925=) rs397517160
NM_005633.4(SOS1):c.3195T>C (p.Tyr1065=) rs1280224224
NM_005633.4(SOS1):c.3693A>G (p.Leu1231=) rs772625418
NM_005633.4(SOS1):c.3813G>A (p.Arg1271=) rs863224405
NM_005633.4(SOS1):c.511-9_511-6del rs986512473
NM_005633.4(SOS1):c.706T>C (p.Leu236=) rs1418372765
NM_005633.4(SOS1):c.771A>G (p.Val257=) rs1671007109
NM_005633.4(SOS1):c.891G>A (p.Ser297=) rs1572841459
NM_005633.4(SOS1):c.976-5dup rs771586560
NM_006912.6(RIT1):c.120G>A (p.Gln40=)
NM_006912.6(RIT1):c.156C>T (p.Pro52=) rs1571999270
NM_006912.6(RIT1):c.237+12del rs763868802
NM_006912.6(RIT1):c.264G>A (p.Gln88=)
NM_006912.6(RIT1):c.381A>C (p.Thr127=) rs1206873288
NM_006912.6(RIT1):c.381A>G (p.Thr127=)
NM_006912.6(RIT1):c.441A>G (p.Glu147=)
NM_006912.6(RIT1):c.609A>G (p.Val203=)
NM_006912.6(RIT1):c.639G>A (p.Lys213=) rs1673288442
NM_006939.4(SOS2):c.1024C>T (p.Leu342=) rs1033098930
NM_006939.4(SOS2):c.1341A>G (p.Pro447=) rs761540894
NM_006939.4(SOS2):c.1767C>T (p.Asn589=) rs1427742827
NM_006939.4(SOS2):c.1815G>T (p.Val605=) rs966907268
NM_006939.4(SOS2):c.2057+19_2057+20del rs111970905
NM_006939.4(SOS2):c.2397G>A (p.Pro799=) rs770022419
NM_006939.4(SOS2):c.3360A>C (p.Pro1120=) rs147513220
NM_006939.4(SOS2):c.3762G>A (p.Thr1254=) rs769536087
NM_006939.4(SOS2):c.399A>G (p.Val133=) rs144584870
NM_006939.4(SOS2):c.846A>G (p.Glu282=) rs776312082

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.