ClinVar Miner

List of variants in gene GAS8 studied for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 278
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HGVS dbSNP gnomAD frequency
NM_001481.3(GAS8):c.597A>G (p.Glu199=) rs868045 0.36742
NM_001481.3(GAS8):c.495+16G>A rs3785182 0.14325
NM_001481.3(GAS8):c.132C>T (p.Arg44=) rs2302513 0.14320
NM_001481.3(GAS8):c.776G>A (p.Arg259Gln) rs17178299 0.05624
NM_001481.3(GAS8):c.1050C>T (p.Thr350=) rs61734731 0.04165
NM_001481.3(GAS8):c.-7T>G rs80287915 0.03946
NM_001481.3(GAS8):c.38A>G (p.Lys13Arg) rs61734732 0.01157
NM_001481.3(GAS8):c.833G>A (p.Arg278His) rs117053233 0.00781
NM_001481.3(GAS8):c.289-12A>G rs116537058 0.00762
NM_001481.3(GAS8):c.595G>A (p.Glu199Lys) rs868044 0.00586
NM_001481.3(GAS8):c.1188T>G (p.Pro396=) rs61734729 0.00582
NM_001481.3(GAS8):c.476T>A (p.Val159Glu) rs116113385 0.00525
NM_001481.3(GAS8):c.1106G>A (p.Arg369His) rs61734730 0.00380
NM_001481.3(GAS8):c.1029C>T (p.Asp343=) rs7205066 0.00272
NM_001481.3(GAS8):c.1073A>G (p.Gln358Arg) rs145962792 0.00177
NM_001481.3(GAS8):c.277G>A (p.Val93Met) rs143559732 0.00154
NM_001481.3(GAS8):c.808G>C (p.Ala270Pro) rs141125763 0.00150
NM_001481.3(GAS8):c.3+13G>A rs747039502 0.00128
NM_001481.3(GAS8):c.1221+4G>A rs201588451 0.00095
NM_001481.3(GAS8):c.1181T>A (p.Leu394Gln) rs142379631 0.00090
NM_001481.3(GAS8):c.407G>C (p.Ser136Thr) rs148760410 0.00077
NM_001481.3(GAS8):c.1210C>T (p.Arg404Cys) rs143772256 0.00066
NM_001481.3(GAS8):c.816G>A (p.Val272=) rs146751871 0.00061
NM_001481.3(GAS8):c.31A>G (p.Lys11Glu) rs146066553 0.00059
NM_001481.3(GAS8):c.841G>C (p.Asp281His) rs139167960 0.00058
NM_001481.3(GAS8):c.1011+7G>C rs377407115 0.00057
NM_001481.3(GAS8):c.1158C>T (p.Asn386=) rs144431155 0.00056
NM_001481.3(GAS8):c.789C>A (p.Asp263Glu) rs138733039 0.00055
NM_001481.3(GAS8):c.1378G>C (p.Ala460Pro) rs142296775 0.00034
NM_001481.3(GAS8):c.45C>A (p.Thr15=) rs188382147 0.00029
NM_001481.3(GAS8):c.250A>C (p.Met84Leu) rs139521886 0.00023
NM_001481.3(GAS8):c.756+19G>T rs762219653 0.00021
NM_001481.3(GAS8):c.1255G>A (p.Asp419Asn) rs146370084 0.00020
NM_001481.3(GAS8):c.1039C>T (p.Arg347Trp) rs138104460 0.00019
NM_001481.3(GAS8):c.1306C>T (p.Arg436Cys) rs555627699 0.00016
NM_001481.3(GAS8):c.3+6C>T rs552480254 0.00016
NM_001481.3(GAS8):c.1061A>G (p.Gln354Arg) rs761102420 0.00015
NM_001481.3(GAS8):c.1221+6C>T rs374119905 0.00014
NM_001481.3(GAS8):c.105C>T (p.Val35=) rs138829033 0.00013
NM_001481.3(GAS8):c.222G>T (p.Lys74Asn) rs141234041 0.00012
NM_001481.3(GAS8):c.550+10C>T rs77534905 0.00011
NM_001481.3(GAS8):c.69A>G (p.Pro23=) rs200245827 0.00010
NM_001481.3(GAS8):c.1236G>A (p.Ser412=) rs377091915 0.00009
NM_001481.3(GAS8):c.261C>T (p.Ala87=) rs186100715 0.00009
NM_001481.3(GAS8):c.924+11C>T rs199773715 0.00008
NM_001481.3(GAS8):c.1297G>A (p.Asp433Asn) rs150016330 0.00007
NM_001481.3(GAS8):c.131G>A (p.Arg44His) rs200219366 0.00007
NM_001481.3(GAS8):c.54C>T (p.Val18=) rs185349515 0.00007
NM_001481.3(GAS8):c.1105C>T (p.Arg369Cys) rs773549442 0.00006
NM_001481.3(GAS8):c.1125C>T (p.Ser375=) rs374475661 0.00006
NM_001481.3(GAS8):c.1211G>A (p.Arg404His) rs755682241 0.00006
NM_001481.3(GAS8):c.1413G>A (p.Ala471=) rs150334765 0.00006
NM_001481.3(GAS8):c.244C>T (p.Arg82Trp) rs773018940 0.00006
NM_001481.3(GAS8):c.316C>G (p.Leu106Val) rs140344685 0.00006
NM_001481.3(GAS8):c.559G>A (p.Ala187Thr) rs145081247 0.00006
NM_001481.3(GAS8):c.694G>A (p.Asp232Asn) rs754194491 0.00006
NM_001481.3(GAS8):c.1096G>A (p.Val366Met) rs771158172 0.00005
NM_001481.3(GAS8):c.1141A>G (p.Lys381Glu) rs1309830886 0.00005
NM_001481.3(GAS8):c.873C>T (p.Ser291=) rs762702389 0.00005
NM_001481.3(GAS8):c.1024C>T (p.Arg342Trp) rs768412907 0.00004
NM_001481.3(GAS8):c.1118C>T (p.Ala373Val) rs185608121 0.00004
NM_001481.3(GAS8):c.1128C>T (p.Ala376=) rs149280611 0.00004
NM_001481.3(GAS8):c.1300C>T (p.Leu434=) rs747703015 0.00004
NM_001481.3(GAS8):c.1335C>T (p.Phe445=) rs537767758 0.00004
NM_001481.3(GAS8):c.1387G>A (p.Gly463Arg) rs376265926 0.00004
NM_001481.3(GAS8):c.490C>T (p.Arg164Trp) rs151099141 0.00004
NM_001481.3(GAS8):c.491G>A (p.Arg164Gln) rs141287302 0.00004
NM_001481.3(GAS8):c.607C>T (p.Arg203Trp) rs776412055 0.00004
NM_001481.3(GAS8):c.900C>T (p.Tyr300=) rs140624161 0.00004
NM_001481.3(GAS8):c.1122G>C (p.Leu374=) rs371059059 0.00003
NM_001481.3(GAS8):c.1159G>A (p.Glu387Lys) rs749269668 0.00003
NM_001481.3(GAS8):c.1433C>T (p.Thr478Met) rs1187785972 0.00003
NM_001481.3(GAS8):c.570T>C (p.Asp190=) rs370692093 0.00003
NM_001481.3(GAS8):c.832C>T (p.Arg278Cys) rs201993896 0.00003
NM_001481.3(GAS8):c.1051G>A (p.Ala351Thr) rs948581380 0.00002
NM_001481.3(GAS8):c.1095C>T (p.Leu365=) rs368313356 0.00002
NM_001481.3(GAS8):c.1126G>A (p.Ala376Thr) rs754597804 0.00002
NM_001481.3(GAS8):c.1235C>T (p.Ser412Leu) rs548463078 0.00002
NM_001481.3(GAS8):c.1411G>A (p.Ala471Thr) rs770183431 0.00002
NM_001481.3(GAS8):c.288+12C>T rs377597312 0.00002
NM_001481.3(GAS8):c.387A>G (p.Lys129=) rs201010501 0.00002
NM_001481.3(GAS8):c.608G>A (p.Arg203Gln) rs747875715 0.00002
NM_001481.3(GAS8):c.632T>C (p.Val211Ala) rs764705666 0.00002
NM_001481.3(GAS8):c.649G>A (p.Gly217Ser) rs780805985 0.00002
NM_001481.3(GAS8):c.654G>A (p.Gln218=) rs149327547 0.00002
NM_001481.3(GAS8):c.756+9C>T rs768853242 0.00002
NM_001481.3(GAS8):c.838G>A (p.Ala280Thr) rs150069321 0.00002
NM_001481.3(GAS8):c.886C>T (p.Gln296Ter) rs143809463 0.00002
NM_001481.3(GAS8):c.1000C>T (p.Arg334Ter) rs755553133 0.00001
NM_001481.3(GAS8):c.1011+2T>C rs778438857 0.00001
NM_001481.3(GAS8):c.1012G>T (p.Val338Leu) rs977173408 0.00001
NM_001481.3(GAS8):c.1037A>G (p.Tyr346Cys) rs2037162822 0.00001
NM_001481.3(GAS8):c.110G>A (p.Arg37His) rs760398932 0.00001
NM_001481.3(GAS8):c.1169C>A (p.Ala390Asp) rs1452970741 0.00001
NM_001481.3(GAS8):c.1275C>T (p.Ala425=) rs747811320 0.00001
NM_001481.3(GAS8):c.1353C>T (p.Asn451=) rs574070740 0.00001
NM_001481.3(GAS8):c.1400G>A (p.Gly467Asp) rs776628562 0.00001
NM_001481.3(GAS8):c.1427C>T (p.Thr476Ile) rs753329361 0.00001
NM_001481.3(GAS8):c.147A>C (p.Arg49=) rs200939568 0.00001
NM_001481.3(GAS8):c.242A>C (p.Asp81Ala) rs769384158 0.00001
NM_001481.3(GAS8):c.262G>A (p.Glu88Lys) rs764346244 0.00001
NM_001481.3(GAS8):c.318A>G (p.Leu106=) rs770015007 0.00001
NM_001481.3(GAS8):c.4-20C>T rs200553227 0.00001
NM_001481.3(GAS8):c.427C>T (p.Arg143Trp) rs374385993 0.00001
NM_001481.3(GAS8):c.550+18T>C rs2036832585 0.00001
NM_001481.3(GAS8):c.554T>C (p.Ile185Thr) rs751798742 0.00001
NM_001481.3(GAS8):c.601G>A (p.Asp201Asn) rs1039044975 0.00001
NM_001481.3(GAS8):c.628G>A (p.Glu210Lys) rs753171620 0.00001
NM_001481.3(GAS8):c.64G>A (p.Ala22Thr) rs762664716 0.00001
NM_001481.3(GAS8):c.678C>T (p.His226=) rs1008048501 0.00001
NM_001481.3(GAS8):c.692C>G (p.Thr231Ser) rs761154837 0.00001
NM_001481.3(GAS8):c.710A>G (p.Tyr237Cys) rs751123954 0.00001
NM_001481.3(GAS8):c.712A>G (p.Asn238Asp) rs754476344 0.00001
NM_001481.3(GAS8):c.717C>T (p.Asp239=) rs1765149285 0.00001
NM_001481.3(GAS8):c.718dup (p.Ile240fs) rs1174065588 0.00001
NM_001481.3(GAS8):c.730A>G (p.Asn244Asp) rs745989300 0.00001
NM_001481.3(GAS8):c.901G>A (p.Glu301Lys) rs757384283 0.00001
NM_001481.3(GAS8):c.91-20G>C rs747219840 0.00001
NM_001481.3(GAS8):c.937C>T (p.Arg313Cys) rs745725272 0.00001
NM_001481.3(GAS8):c.987A>G (p.Glu329=) rs758642844 0.00001
NC_000016.10:g.(?_90022702)_(90040529_?)del
NC_000016.10:g.(?_90035613)_(90043365_?)dup
NC_000016.10:g.(?_90040280)_(90043365_?)del
NC_000016.9:g.(?_90089110)_(90109773_?)dup
NC_000016.9:g.(?_90089130)_(90089152_?)del
NC_000016.9:g.(?_90089130)_(90094150_?)del
NC_000016.9:g.(?_90089130)_(90106937_?)dup
NC_000016.9:g.(?_90094024)_(90094150_?)del
NC_000016.9:g.(?_90094024)_(90099352_?)dup
NC_000016.9:g.(?_90094024)_(90109753_?)dup
NC_000016.9:g.(?_90102021)_(90106937_?)del
NC_000016.9:g.(?_90106688)_(90109753_?)dup
NC_000016.9:g.(?_90108858)_(90109753_?)dup
NC_000016.9:g.(?_90108858)_(90109773_?)dup
NM_001481.3(GAS8):c.*9dup rs3833069
NM_001481.3(GAS8):c.1000C>A (p.Arg334=)
NM_001481.3(GAS8):c.1002A>T (p.Arg334=)
NM_001481.3(GAS8):c.1011+19G>T
NM_001481.3(GAS8):c.1012-13G>A
NM_001481.3(GAS8):c.1012-14C>T
NM_001481.3(GAS8):c.1012-9T>C rs1555651546
NM_001481.3(GAS8):c.1025G>C (p.Arg342Pro) rs532241934
NM_001481.3(GAS8):c.1034T>G (p.Leu345Arg)
NM_001481.3(GAS8):c.1064A>T (p.Glu355Val)
NM_001481.3(GAS8):c.1069C>T (p.Gln357Ter) rs566755911
NM_001481.3(GAS8):c.1082G>C (p.Gly361Ala)
NM_001481.3(GAS8):c.1092C>T (p.Asn364=)
NM_001481.3(GAS8):c.1101A>G (p.Leu367=)
NM_001481.3(GAS8):c.1131T>C (p.Ala377=)
NM_001481.3(GAS8):c.1146G>C (p.Glu382Asp)
NM_001481.3(GAS8):c.1172C>T (p.Ala391Val)
NM_001481.3(GAS8):c.117G>A (p.Arg39=)
NM_001481.3(GAS8):c.1199C>T (p.Thr400Met)
NM_001481.3(GAS8):c.1201C>G (p.Leu401Val)
NM_001481.3(GAS8):c.1221+10A>G
NM_001481.3(GAS8):c.1221+19C>G
NM_001481.3(GAS8):c.1222-13T>G
NM_001481.3(GAS8):c.123G>A (p.Glu41=)
NM_001481.3(GAS8):c.1244G>A (p.Ser415Asn)
NM_001481.3(GAS8):c.1248C>T (p.Thr416=)
NM_001481.3(GAS8):c.1279G>C (p.Val427Leu)
NM_001481.3(GAS8):c.1288-13C>T
NM_001481.3(GAS8):c.1288-14C>T
NM_001481.3(GAS8):c.1296C>T (p.Asn432=)
NM_001481.3(GAS8):c.1310C>A (p.Thr437Lys) rs145191565
NM_001481.3(GAS8):c.1336G>A (p.Gly446Arg)
NM_001481.3(GAS8):c.1338G>A (p.Gly446=)
NM_001481.3(GAS8):c.1354G>A (p.Val452Met)
NM_001481.3(GAS8):c.1365G>A (p.Lys455=)
NM_001481.3(GAS8):c.137G>A (p.Arg46Gln)
NM_001481.3(GAS8):c.1388G>C (p.Gly463Ala)
NM_001481.3(GAS8):c.1390C>T (p.Gln464Ter)
NM_001481.3(GAS8):c.1394_1395inv (p.Thr465Met)
NM_001481.3(GAS8):c.1395A>C (p.Thr465=) rs3743825
NM_001481.3(GAS8):c.1395A>G (p.Thr465=) rs3743825
NM_001481.3(GAS8):c.1409C>T (p.Pro470Leu)
NM_001481.3(GAS8):c.1410C>T (p.Pro470=)
NM_001481.3(GAS8):c.1412C>T (p.Ala471Val) rs140194942
NM_001481.3(GAS8):c.1424G>T (p.Gly475Val) rs1357817895
NM_001481.3(GAS8):c.1425C>A (p.Gly475=)
NM_001481.3(GAS8):c.1434G>A (p.Thr478=)
NM_001481.3(GAS8):c.160C>G (p.Leu54Val)
NM_001481.3(GAS8):c.17A>G (p.Lys6Arg)
NM_001481.3(GAS8):c.199C>T (p.Arg67Trp) rs369186884
NM_001481.3(GAS8):c.1A>G (p.Met1Val) rs1057484078
NM_001481.3(GAS8):c.1A>T (p.Met1Leu)
NM_001481.3(GAS8):c.204G>A (p.Arg68=)
NM_001481.3(GAS8):c.206A>G (p.Gln69Arg) rs778306447
NM_001481.3(GAS8):c.217AAG[1] (p.Lys74del) rs775350365
NM_001481.3(GAS8):c.220_221delinsGC (p.Lys74Ala)
NM_001481.3(GAS8):c.232C>T (p.Arg78Trp)
NM_001481.3(GAS8):c.245G>A (p.Arg82Gln) rs884928
NM_001481.3(GAS8):c.247G>A (p.Glu83Lys)
NM_001481.3(GAS8):c.258A>T (p.Glu86Asp) rs2151282839
NM_001481.3(GAS8):c.270G>C (p.Arg90Ser)
NM_001481.3(GAS8):c.288+13G>A
NM_001481.3(GAS8):c.289-6C>T
NM_001481.3(GAS8):c.289G>A (p.Val97Met) rs147133929
NM_001481.3(GAS8):c.289G>T (p.Val97Leu) rs147133929
NM_001481.3(GAS8):c.3+11G>C
NM_001481.3(GAS8):c.3+7_3+12del
NM_001481.3(GAS8):c.303A>G (p.Lys101=)
NM_001481.3(GAS8):c.313C>T (p.Leu105=) rs2036650119
NM_001481.3(GAS8):c.331A>C (p.Asn111His)
NM_001481.3(GAS8):c.336C>G (p.Asn112Lys) rs2151284701
NM_001481.3(GAS8):c.357G>A (p.Glu119=)
NM_001481.3(GAS8):c.392_460del (p.His131_Glu153del)
NM_001481.3(GAS8):c.393C>T (p.His131=)
NM_001481.3(GAS8):c.4-16A>G
NM_001481.3(GAS8):c.4-18C>G
NM_001481.3(GAS8):c.4-7A>C
NM_001481.3(GAS8):c.416G>A (p.Arg139His)
NM_001481.3(GAS8):c.42C>T (p.Gly14=) rs2151276637
NM_001481.3(GAS8):c.460C>G (p.Leu154Val) rs541006180
NM_001481.3(GAS8):c.466A>G (p.Ser156Gly) rs771101764
NM_001481.3(GAS8):c.46C>G (p.Pro16Ala)
NM_001481.3(GAS8):c.480G>C (p.Val160=)
NM_001481.3(GAS8):c.486C>T (p.Asn162=)
NM_001481.3(GAS8):c.495+1G>T
NM_001481.3(GAS8):c.495+8T>G rs1597629138
NM_001481.3(GAS8):c.496-18C>T
NM_001481.3(GAS8):c.504C>T (p.Thr168=)
NM_001481.3(GAS8):c.523C>T (p.Arg175Trp)
NM_001481.3(GAS8):c.549A>T (p.Arg183=)
NM_001481.3(GAS8):c.550+12G>A
NM_001481.3(GAS8):c.551-11C>T
NM_001481.3(GAS8):c.551-14C>G
NM_001481.3(GAS8):c.551-16T>A
NM_001481.3(GAS8):c.551A>C (p.Glu184Ala) rs201534876
NM_001481.3(GAS8):c.600C>T (p.Leu200=)
NM_001481.3(GAS8):c.607C>A (p.Arg203=)
NM_001481.3(GAS8):c.621G>A (p.Glu207=)
NM_001481.3(GAS8):c.627C>T (p.His209=)
NM_001481.3(GAS8):c.631G>C (p.Val211Leu) rs756435150
NM_001481.3(GAS8):c.63C>T (p.Leu21=)
NM_001481.3(GAS8):c.679G>A (p.Glu227Lys) rs574664551
NM_001481.3(GAS8):c.67C>G (p.Pro23Ala)
NM_001481.3(GAS8):c.693C>T (p.Thr231=)
NM_001481.3(GAS8):c.714C>T (p.Asn238=)
NM_001481.3(GAS8):c.715G>A (p.Asp239Asn)
NM_001481.3(GAS8):c.715G>T (p.Asp239Tyr)
NM_001481.3(GAS8):c.722C>T (p.Thr241Ile)
NM_001481.3(GAS8):c.729C>T (p.Asn243=)
NM_001481.3(GAS8):c.741C>T (p.Leu247=)
NM_001481.3(GAS8):c.751C>T (p.Leu251Phe)
NM_001481.3(GAS8):c.756+10G>A
NM_001481.3(GAS8):c.756+7T>C
NM_001481.3(GAS8):c.757-1G>C
NM_001481.3(GAS8):c.757-20G>T
NM_001481.3(GAS8):c.76A>C (p.Met26Leu) rs142699309
NM_001481.3(GAS8):c.76A>G (p.Met26Val) rs142699309
NM_001481.3(GAS8):c.775C>A (p.Arg259=)
NM_001481.3(GAS8):c.809C>T (p.Ala270Val)
NM_001481.3(GAS8):c.81C>G (p.Ser27Arg) rs2151276720
NM_001481.3(GAS8):c.828C>T (p.Asn276=)
NM_001481.3(GAS8):c.847C>T (p.Leu283Phe)
NM_001481.3(GAS8):c.85G>A (p.Glu29Lys) rs560531650
NM_001481.3(GAS8):c.865del (p.Glu289fs) rs1597643228
NM_001481.3(GAS8):c.887del (p.Gln296fs)
NM_001481.3(GAS8):c.894A>T (p.Ala298=) rs947888399
NM_001481.3(GAS8):c.90+11C>G
NM_001481.3(GAS8):c.90+11C>T
NM_001481.3(GAS8):c.90+13G>A
NM_001481.3(GAS8):c.906G>A (p.Arg302=)
NM_001481.3(GAS8):c.909C>A (p.Asp303Glu) rs2036932810
NM_001481.3(GAS8):c.91-17C>G
NM_001481.3(GAS8):c.911A>G (p.Lys304Arg)
NM_001481.3(GAS8):c.924+20C>G
NM_001481.3(GAS8):c.925-16C>T
NM_001481.3(GAS8):c.925-2A>C
NM_001481.3(GAS8):c.927C>A (p.Cys309Ter) rs748688175
NM_001481.3(GAS8):c.927C>T (p.Cys309=)
NM_001481.3(GAS8):c.936C>G (p.Ala312=)
NM_001481.3(GAS8):c.937C>A (p.Arg313Ser)
NM_001481.3(GAS8):c.938G>A (p.Arg313His)
NM_001481.3(GAS8):c.965A>G (p.Lys322Arg)
NM_001481.3(GAS8):c.975G>A (p.Gln325=)
NM_001481.3(GAS8):c.97G>T (p.Glu33Ter)

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