ClinVar Miner

List of variants reported as uncertain significance for EIG by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 293
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HGVS dbSNP
NC_000001.10:g.(?_1249188)_(1961741_?)del
NC_000001.11:g.(?_2019404)_(2030302_?)dup
NM_000726.4(CACNB4):c.1027C>G (p.Gln343Glu) rs1328517680
NM_000726.4(CACNB4):c.1061G>A (p.Ser354Asn)
NM_000726.4(CACNB4):c.1198C>T (p.Arg400Cys) rs1060503174
NM_000726.4(CACNB4):c.1213A>C (p.Thr405Pro)
NM_000726.4(CACNB4):c.1310G>A (p.Arg437Gln)
NM_000726.4(CACNB4):c.1318C>G (p.His440Asp) rs1553740358
NM_000726.4(CACNB4):c.1355G>A (p.Arg452Lys) rs762394421
NM_000726.4(CACNB4):c.147+3A>G rs768976112
NM_000726.4(CACNB4):c.1470_1472del (p.Glu490del)
NM_000726.4(CACNB4):c.1509T>C (p.His503=) rs1060503173
NM_000726.4(CACNB4):c.1553A>G (p.His518Arg) rs377492950
NM_000726.4(CACNB4):c.315C>T (p.Gly105=) rs748422887
NM_000726.4(CACNB4):c.356C>T (p.Ser119Phe)
NM_000726.4(CACNB4):c.770C>T (p.Thr257Met) rs1553749683
NM_000726.4(CACNB4):c.8C>T (p.Ser3Phe) rs542973906
NM_000726.4(CACNB4):c.91A>C (p.Ser31Arg) rs773391545
NM_000726.4(CACNB4):c.967A>G (p.Ile323Val)
NM_000726.4(CACNB4):c.988A>G (p.Ile330Val)
NM_000806.5(GABRA1):c.1020A>C (p.Arg340Ser)
NM_000806.5(GABRA1):c.1108C>A (p.Pro370Thr)
NM_000806.5(GABRA1):c.1225C>T (p.Pro409Ser) rs139793542
NM_000806.5(GABRA1):c.1228A>G (p.Lys410Glu) rs1424659316
NM_000806.5(GABRA1):c.1332C>G (p.Asn444Lys) rs1554087843
NM_000806.5(GABRA1):c.1351G>A (p.Ala451Thr) rs1312439667
NM_000806.5(GABRA1):c.485T>G (p.Val162Gly) rs1554085822
NM_000806.5(GABRA1):c.498T>G (p.Cys166Trp)
NM_000806.5(GABRA1):c.649C>A (p.Gln217Lys) rs1554086437
NM_000806.5(GABRA1):c.75C>T (p.Ser25=)
NM_000806.5(GABRA1):c.787A>T (p.Met263Leu)
NM_000806.5(GABRA1):c.85C>T (p.Pro29Ser) rs143815396
NM_000806.5(GABRA1):c.94C>A (p.Gln32Lys) rs769743354
NM_000815.4(GABRD):c.1006G>A (p.Asp336Asn)
NM_000815.4(GABRD):c.1027G>C (p.Ala343Pro) rs749316684
NM_000815.4(GABRD):c.1065C>G (p.Asp355Glu) rs1031482653
NM_000815.4(GABRD):c.1108G>A (p.Val370Ile) rs1057519556
NM_000815.4(GABRD):c.1174A>G (p.Arg392Gly) rs1553123940
NM_000815.4(GABRD):c.1222C>T (p.Arg408Cys)
NM_000815.4(GABRD):c.1252C>T (p.Arg418Trp)
NM_000815.4(GABRD):c.1324G>A (p.Val442Ile)
NM_000815.4(GABRD):c.14C>G (p.Ala5Gly) rs1207791272
NM_000815.4(GABRD):c.263C>T (p.Thr88Met) rs373508468
NM_000815.4(GABRD):c.392C>T (p.Ser131Leu)
NM_000815.4(GABRD):c.470+6C>T rs202225187
NM_000815.4(GABRD):c.471-8C>A rs748813137
NM_000815.4(GABRD):c.577G>A (p.Val193Ile)
NM_000815.4(GABRD):c.638A>G (p.Gln213Arg)
NM_000815.4(GABRD):c.68+10C>T
NM_000815.4(GABRD):c.728T>C (p.Leu243Pro) rs1248355743
NM_000815.4(GABRD):c.730C>T (p.Arg244Trp)
NM_000815.4(GABRD):c.969C>A (p.Ala323=) rs146381127
NM_001082575.2(RBFOX3):c.166G>A (p.Glu56Lys)
NM_001082575.2(RBFOX3):c.19C>T (p.Pro7Ser) rs376060745
NM_001082575.2(RBFOX3):c.232G>A (p.Glu78Lys)
NM_001082575.2(RBFOX3):c.257C>T (p.Pro86Leu) rs377660420
NM_001082575.2(RBFOX3):c.271G>A (p.Asp91Asn) rs375940495
NM_001082575.2(RBFOX3):c.347G>A (p.Arg116Gln) rs199891032
NM_001082575.2(RBFOX3):c.414G>C (p.Lys138Asn)
NM_001082575.2(RBFOX3):c.548C>T (p.Thr183Met) rs542684395
NM_001082575.2(RBFOX3):c.556C>A (p.Pro186Thr) rs372072435
NM_001082575.2(RBFOX3):c.568+6G>C
NM_001082575.2(RBFOX3):c.62A>C (p.Glu21Ala) rs1167103679
NM_001082575.2(RBFOX3):c.68C>T (p.Ala23Val) rs878854171
NM_001082575.2(RBFOX3):c.914C>T (p.Ala305Val) rs1294363374
NM_021098.2(CACNA1H):c.1001G>A (p.Arg334His) rs964941206
NM_021098.2(CACNA1H):c.1144G>A (p.Asp382Asn)
NM_021098.2(CACNA1H):c.1172A>G (p.His391Arg)
NM_021098.2(CACNA1H):c.1390G>A (p.Val464Met) rs61910721
NM_021098.2(CACNA1H):c.1405C>T (p.Arg469Cys) rs746748953
NM_021098.2(CACNA1H):c.140G>C (p.Gly47Ala) rs1555498163
NM_021098.2(CACNA1H):c.1436A>G (p.Tyr479Cys) rs199914911
NM_021098.2(CACNA1H):c.1453C>T (p.Arg485Cys) rs765665281
NM_021098.2(CACNA1H):c.149C>T (p.Pro50Leu)
NM_021098.2(CACNA1H):c.1517G>A (p.Arg506Gln) rs532223684
NM_021098.2(CACNA1H):c.171G>T (p.Glu57Asp) rs539324457
NM_021098.2(CACNA1H):c.1768C>T (p.Arg590Trp) rs199920661
NM_021098.2(CACNA1H):c.1769G>A (p.Arg590Gln) rs748210497
NM_021098.2(CACNA1H):c.1778_1789delATGCCGCAGCCA (p.His593_Thr597delinsPro)
NM_021098.2(CACNA1H):c.1795G>A (p.Ala599Thr) rs776370351
NM_021098.2(CACNA1H):c.1850T>C (p.Leu617Pro) rs1433856447
NM_021098.2(CACNA1H):c.1870G>A (p.Gly624Ser) rs750987846
NM_021098.2(CACNA1H):c.1891G>A (p.Gly631Arg) rs369898856
NM_021098.2(CACNA1H):c.1895C>A (p.Pro632His)
NM_021098.2(CACNA1H):c.1937A>C (p.His646Pro) rs767196759
NM_021098.2(CACNA1H):c.1939G>A (p.Gly647Ser) rs147702970
NM_021098.2(CACNA1H):c.2001T>A (p.His667Gln) rs1180154075
NM_021098.2(CACNA1H):c.2031G>A (p.Ser677=) rs3751663
NM_021098.2(CACNA1H):c.2039G>A (p.Ser680Asn) rs371925462
NM_021098.2(CACNA1H):c.2069C>T (p.Ala690Val) rs61018135
NM_021098.2(CACNA1H):c.2113C>T (p.Arg705Cys)
NM_021098.2(CACNA1H):c.2173C>T (p.Arg725Cys) rs764438301
NM_021098.2(CACNA1H):c.2183A>G (p.Tyr728Cys)
NM_021098.2(CACNA1H):c.2188T>C (p.Phe730Leu)
NM_021098.2(CACNA1H):c.2200G>A (p.Val734Ile)
NM_021098.2(CACNA1H):c.2215C>T (p.Arg739Cys) rs371167728
NM_021098.2(CACNA1H):c.2239C>T (p.Arg747Cys) rs369566757
NM_021098.2(CACNA1H):c.2255C>T (p.Pro752Leu) rs761877111
NM_021098.2(CACNA1H):c.2264G>A (p.Gly755Asp) rs142306293
NM_021098.2(CACNA1H):c.2266_2271dup (p.Gly757_Ser758insProGly)
NM_021098.2(CACNA1H):c.2284C>T (p.Arg762Trp)
NM_021098.2(CACNA1H):c.2329C>T (p.Arg777Cys)
NM_021098.2(CACNA1H):c.2387G>A (p.Ser796Asn)
NM_021098.2(CACNA1H):c.2389C>T (p.Arg797Cys) rs183042575
NM_021098.2(CACNA1H):c.2452-6C>G
NM_021098.2(CACNA1H):c.2465C>T (p.Thr822Ile)
NM_021098.2(CACNA1H):c.2540G>C (p.Cys847Ser)
NM_021098.2(CACNA1H):c.2542G>A (p.Gly848Ser)
NM_021098.2(CACNA1H):c.2561G>A (p.Arg854Gln)
NM_021098.2(CACNA1H):c.2603+3G>A
NM_021098.2(CACNA1H):c.2627C>T (p.Ala876Val)
NM_021098.2(CACNA1H):c.2704C>T (p.Arg902Trp) rs779011503
NM_021098.2(CACNA1H):c.2705G>A (p.Arg902Gln) rs748252386
NM_021098.2(CACNA1H):c.2842G>A (p.Gly948Arg) rs763407611
NM_021098.2(CACNA1H):c.28G>A (p.Glu10Lys)
NM_021098.2(CACNA1H):c.300-8G>T rs3751662
NM_021098.2(CACNA1H):c.3059C>A (p.Ala1020Glu) rs771994752
NM_021098.2(CACNA1H):c.3063+9delG rs757759305
NM_021098.2(CACNA1H):c.3066C>T (p.Gly1022=)
NM_021098.2(CACNA1H):c.3067G>A (p.Asp1023Asn)
NM_021098.2(CACNA1H):c.3082G>A (p.Asp1028Asn) rs745354512
NM_021098.2(CACNA1H):c.3101C>T (p.Thr1034Met) rs371500703
NM_021098.2(CACNA1H):c.3139G>A (p.Glu1047Lys)
NM_021098.2(CACNA1H):c.313G>A (p.Val105Met)
NM_021098.2(CACNA1H):c.3143_3145delTCC (p.Leu1048del) rs1555514742
NM_021098.2(CACNA1H):c.3154+3G>A
NM_021098.2(CACNA1H):c.3173T>C (p.Leu1058Pro) rs1369723667
NM_021098.2(CACNA1H):c.3256C>T (p.Pro1086Ser) rs1049677203
NM_021098.2(CACNA1H):c.3260C>T (p.Thr1087Ile)
NM_021098.2(CACNA1H):c.3263C>T (p.Pro1088Leu)
NM_021098.2(CACNA1H):c.3280C>A (p.Leu1094Met)
NM_021098.2(CACNA1H):c.3331G>C (p.Gly1111Arg)
NM_021098.2(CACNA1H):c.3422_3442delGGCGCTCCAGCTGGAGCAGCC (p.Arg1141_Ser1147del) rs746597383
NM_021098.2(CACNA1H):c.3508G>A (p.Glu1170Lys)
NM_021098.2(CACNA1H):c.3519C>T (p.Gly1173=)
NM_021098.2(CACNA1H):c.3520A>G (p.Ser1174Gly)
NM_021098.2(CACNA1H):c.3559G>A (p.Gly1187Arg) rs772258959
NM_021098.2(CACNA1H):c.3581G>A (p.Arg1194Gln) rs759668583
NM_021098.2(CACNA1H):c.3589G>A (p.Glu1197Lys) rs751423106
NM_021098.2(CACNA1H):c.3599A>C (p.Asp1200Ala) rs1555515661
NM_021098.2(CACNA1H):c.3601C>A (p.Pro1201Thr)
NM_021098.2(CACNA1H):c.3643C>T (p.Arg1215Cys) rs756154211
NM_021098.2(CACNA1H):c.3644G>A (p.Arg1215His) rs370838298
NM_021098.2(CACNA1H):c.3646G>A (p.Asp1216Asn) rs754581272
NM_021098.2(CACNA1H):c.3649C>T (p.Arg1217Cys) rs778684497
NM_021098.2(CACNA1H):c.3650G>A (p.Arg1217His) rs374847612
NM_021098.2(CACNA1H):c.3652G>A (p.Asp1218Asn) rs771215852
NM_021098.2(CACNA1H):c.3658C>G (p.Gln1220Glu)
NM_021098.2(CACNA1H):c.3702C>A (p.Ser1234Arg) rs1176658784
NM_021098.2(CACNA1H):c.3737C>G (p.Ser1246Trp) rs571145188
NM_021098.2(CACNA1H):c.3737C>T (p.Ser1246Leu)
NM_021098.2(CACNA1H):c.3742G>A (p.Asp1248Asn) rs552269381
NM_021098.2(CACNA1H):c.3744+1G>A rs770718464
NM_021098.2(CACNA1H):c.3757C>T (p.Arg1253Cys)
NM_021098.2(CACNA1H):c.3799C>T (p.Arg1267Trp) rs751642419
NM_021098.2(CACNA1H):c.3853G>A (p.Val1285Ile) rs761199543
NM_021098.2(CACNA1H):c.3925G>A (p.Val1309Ile)
NM_021098.2(CACNA1H):c.3931A>G (p.Ile1311Val) rs754671059
NM_021098.2(CACNA1H):c.3974G>A (p.Arg1325Gln) rs949170696
NM_021098.2(CACNA1H):c.4022C>T (p.Ala1341Val) rs371030255
NM_021098.2(CACNA1H):c.4063G>A (p.Gly1355Ser)
NM_021098.2(CACNA1H):c.4070A>T (p.His1357Leu) rs775971172
NM_021098.2(CACNA1H):c.4072G>A (p.Ala1358Thr)
NM_021098.2(CACNA1H):c.4120G>A (p.Val1374Met) rs201855332
NM_021098.2(CACNA1H):c.4234C>T (p.Arg1412Trp)
NM_021098.2(CACNA1H):c.4244G>A (p.Gly1415Asp)
NM_021098.2(CACNA1H):c.4316C>T (p.Ala1439Val)
NM_021098.2(CACNA1H):c.4318_4319delTTinsGC (p.Phe1440Ala)
NM_021098.2(CACNA1H):c.4430A>G (p.His1477Arg)
NM_021098.2(CACNA1H):c.4435C>A (p.Arg1479Ser) rs181140276
NM_021098.2(CACNA1H):c.4448G>A (p.Arg1483His) rs774455553
NM_021098.2(CACNA1H):c.4534G>A (p.Asp1512Asn) rs200709671
NM_021098.2(CACNA1H):c.4558G>A (p.Asp1520Asn) rs555853603
NM_021098.2(CACNA1H):c.4624G>A (p.Val1542Ile) rs745495784
NM_021098.2(CACNA1H):c.463A>T (p.Met155Leu) rs1045818263
NM_021098.2(CACNA1H):c.4646T>C (p.Met1549Thr)
NM_021098.2(CACNA1H):c.4651G>A (p.Val1551Met) rs369045626
NM_021098.2(CACNA1H):c.4720G>C (p.Glu1574Gln)
NM_021098.2(CACNA1H):c.4739G>A (p.Arg1580His) rs200627008
NM_021098.2(CACNA1H):c.4759+1G>A rs1406256818
NM_021098.2(CACNA1H):c.4759+4A>G
NM_021098.2(CACNA1H):c.4762A>G (p.Thr1588Ala) rs1555517834
NM_021098.2(CACNA1H):c.4780_4781delGCinsTT (p.Ala1594Phe) rs1555518356
NM_021098.2(CACNA1H):c.4787G>A (p.Arg1596His) rs1458781875
NM_021098.2(CACNA1H):c.4814C>T (p.Pro1605Leu)
NM_021098.2(CACNA1H):c.4822C>T (p.Arg1608Cys) rs531597200
NM_021098.2(CACNA1H):c.4835C>T (p.Ser1612Leu) rs370292995
NM_021098.2(CACNA1H):c.4853A>C (p.Tyr1618Ser) rs769175169
NM_021098.2(CACNA1H):c.4886T>C (p.Val1629Ala) rs1555518486
NM_021098.2(CACNA1H):c.4906A>G (p.Met1636Val) rs371096587
NM_021098.2(CACNA1H):c.4929+5G>A rs1054400971
NM_021098.2(CACNA1H):c.4931C>T (p.Ser1644Leu) rs745902196
NM_021098.2(CACNA1H):c.5020C>T (p.Arg1674Cys) rs771932368
NM_021098.2(CACNA1H):c.5024G>A (p.Arg1675Gln)
NM_021098.2(CACNA1H):c.5081T>C (p.Met1694Thr) rs375015931
NM_021098.2(CACNA1H):c.5173+5G>A
NM_021098.2(CACNA1H):c.519G>C (p.Arg173Ser)
NM_021098.2(CACNA1H):c.5207G>A (p.Arg1736His) rs3889063
NM_021098.2(CACNA1H):c.5274_5276delCCT (p.Leu1759del)
NM_021098.2(CACNA1H):c.5342C>G (p.Pro1781Arg)
NM_021098.2(CACNA1H):c.5406C>A (p.Phe1802Leu)
NM_021098.2(CACNA1H):c.5436G>T (p.Gly1812=)
NM_021098.2(CACNA1H):c.5445+4C>G
NM_021098.2(CACNA1H):c.5446-10C>G
NM_021098.2(CACNA1H):c.5446-6C>A rs923710949
NM_021098.2(CACNA1H):c.5458G>A (p.Glu1820Lys)
NM_021098.2(CACNA1H):c.5512G>A (p.Val1838Ile)
NM_021098.2(CACNA1H):c.5519T>G (p.Phe1840Cys)
NM_021098.2(CACNA1H):c.5521G>A (p.Val1841Met)
NM_021098.2(CACNA1H):c.552G>A (p.Met184Ile)
NM_021098.2(CACNA1H):c.5621C>T (p.Ala1874Val) rs374807892
NM_021098.2(CACNA1H):c.5635G>A (p.Glu1879Lys) rs377103385
NM_021098.2(CACNA1H):c.5677C>T (p.Arg1893Trp)
NM_021098.2(CACNA1H):c.5678G>A (p.Arg1893Gln)
NM_021098.2(CACNA1H):c.5696C>T (p.Pro1899Leu) rs750475467
NM_021098.2(CACNA1H):c.5717C>T (p.Pro1906Leu) rs749054531
NM_021098.2(CACNA1H):c.5729_5730invAC (p.Asp1910Gly)
NM_021098.2(CACNA1H):c.5752A>G (p.Lys1918Glu)
NM_021098.2(CACNA1H):c.5765C>T (p.Ser1922Phe) rs919557968
NM_021098.2(CACNA1H):c.5816C>T (p.Pro1939Leu)
NM_021098.2(CACNA1H):c.5818G>C (p.Ala1940Pro)
NM_021098.2(CACNA1H):c.5825C>T (p.Ala1942Val) rs72552053
NM_021098.2(CACNA1H):c.5852T>A (p.Val1951Glu)
NM_021098.2(CACNA1H):c.5945C>T (p.Pro1982Leu)
NM_021098.2(CACNA1H):c.5970G>T (p.Arg1990Ser)
NM_021098.2(CACNA1H):c.5973C>A (p.Ser1991Arg)
NM_021098.2(CACNA1H):c.5974G>A (p.Gly1992Ser) rs558813483
NM_021098.2(CACNA1H):c.5983C>T (p.Leu1995Phe)
NM_021098.2(CACNA1H):c.6014G>A (p.Arg2005His) rs368553931
NM_021098.2(CACNA1H):c.6031C>T (p.Arg2011Trp) rs753241781
NM_021098.2(CACNA1H):c.6032G>A (p.Arg2011Gln) rs554063452
NM_021098.2(CACNA1H):c.6197G>C (p.Ser2066Thr) rs369917102
NM_021098.2(CACNA1H):c.6199G>A (p.Val2067Ile) rs370883583
NM_021098.2(CACNA1H):c.6208C>T (p.Arg2070Cys) rs758461760
NM_021098.2(CACNA1H):c.6235G>A (p.Val2079Ile)
NM_021098.2(CACNA1H):c.6244C>T (p.Arg2082Trp)
NM_021098.2(CACNA1H):c.6253G>C (p.Ala2085Pro) rs1555520840
NM_021098.2(CACNA1H):c.6260G>T (p.Gly2087Val) rs750666820
NM_021098.2(CACNA1H):c.6262G>A (p.Gly2088Arg) rs779925007
NM_021098.2(CACNA1H):c.6281C>G (p.Ser2094Trp)
NM_021098.2(CACNA1H):c.6295G>A (p.Glu2099Lys) rs774769004
NM_021098.2(CACNA1H):c.6311_6325delTCACCAGCTCCGCCT (p.Ile2104_Cys2109delinsSer) rs774660673
NM_021098.2(CACNA1H):c.6328C>T (p.Pro2110Ser)
NM_021098.2(CACNA1H):c.6341C>T (p.Thr2114Ile) rs774915687
NM_021098.2(CACNA1H):c.6358C>A (p.Pro2120Thr) rs1225788473
NM_021098.2(CACNA1H):c.6383G>A (p.Gly2128Asp) rs772416042
NM_021098.2(CACNA1H):c.6470C>T (p.Ser2157Leu)
NM_021098.2(CACNA1H):c.6485G>T (p.Ser2162Ile)
NM_021098.2(CACNA1H):c.6488G>C (p.Gly2163Ala) rs1348390859
NM_021098.2(CACNA1H):c.6511T>C (p.Trp2171Arg) rs746446797
NM_021098.2(CACNA1H):c.6557_6559delAGA (p.Lys2186del)
NM_021098.2(CACNA1H):c.6565C>T (p.Pro2189Ser) rs538538654
NM_021098.2(CACNA1H):c.6593C>T (p.Ala2198Val) rs776473889
NM_021098.2(CACNA1H):c.6605G>A (p.Gly2202Asp) rs762635374
NM_021098.2(CACNA1H):c.6617C>T (p.Pro2206Leu)
NM_021098.2(CACNA1H):c.6623C>T (p.Ala2208Val)
NM_021098.2(CACNA1H):c.6625G>C (p.Ala2209Pro) rs59103647
NM_021098.2(CACNA1H):c.6652C>T (p.Arg2218Cys)
NM_021098.2(CACNA1H):c.6718G>A (p.Ala2240Thr) rs774116060
NM_021098.2(CACNA1H):c.6724G>A (p.Gly2242Arg) rs776025785
NM_021098.2(CACNA1H):c.6748C>A (p.Arg2250Ser) rs375586314
NM_021098.2(CACNA1H):c.6749G>A (p.Arg2250His) rs554435610
NM_021098.2(CACNA1H):c.6769C>T (p.Arg2257Trp) rs770202267
NM_021098.2(CACNA1H):c.6955_6957delGAG (p.Glu2319del) rs755117171
NM_021098.2(CACNA1H):c.7000G>C (p.Glu2334Gln)
NM_021098.2(CACNA1H):c.733G>A (p.Gly245Ser) rs774687054
NM_021098.2(CACNA1H):c.790A>G (p.Ser264Gly) rs745571869
NM_021098.2(CACNA1H):c.853G>A (p.Glu285Lys)
NM_021098.2(CACNA1H):c.912C>G (p.His304Gln) rs377665479
NM_021098.2(CACNA1H):c.926G>A (p.Arg309His) rs201651793
NM_021098.2(CACNA1H):c.927C>T (p.Arg309=)
NM_145891.2(RBFOX1):c.1018G>T (p.Ala340Ser) rs199644500
NM_145891.2(RBFOX1):c.1069G>C (p.Val357Leu) rs766496349
NM_145891.2(RBFOX1):c.106G>A (p.Ala36Thr) rs779321097
NM_145891.2(RBFOX1):c.1096G>A (p.Ala366Thr) rs150941982
NM_145891.2(RBFOX1):c.1096G>C (p.Ala366Pro) rs150941982
NM_145891.2(RBFOX1):c.1103C>T (p.Ala368Val) rs1555812114
NM_145891.2(RBFOX1):c.1105C>G (p.Pro369Ala)
NM_145891.2(RBFOX1):c.112C>G (p.Pro38Ala) rs149974858
NM_145891.2(RBFOX1):c.1152G>C (p.Leu384Phe)
NM_145891.2(RBFOX1):c.154C>G (p.Pro52Ala)
NM_145891.2(RBFOX1):c.190C>T (p.Pro64Ser) rs201490398
NM_145891.2(RBFOX1):c.211G>A (p.Glu71Lys)
NM_145891.2(RBFOX1):c.223C>G (p.Gln75Glu)
NM_145891.2(RBFOX1):c.259C>T (p.Pro87Ser) rs143573994
NM_145891.2(RBFOX1):c.293C>G (p.Ala98Gly) rs761205127
NM_145891.2(RBFOX1):c.350C>T (p.Pro117Leu)
NM_145891.2(RBFOX1):c.353C>T (p.Thr118Met) rs373077021
NM_145891.2(RBFOX1):c.46A>G (p.Met16Val) rs779418628
NM_145891.2(RBFOX1):c.56C>T (p.Pro19Leu)
NM_145891.2(RBFOX1):c.83T>C (p.Ile28Thr) rs147525462
NM_145891.2(RBFOX1):c.889C>T (p.Arg297Cys)
NM_145891.2(RBFOX1):c.951-9T>A rs768777551

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