ClinVar Miner

List of variants in gene GAS8 reported as likely benign for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 113
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HGVS dbSNP gnomAD frequency
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.1221+4G>A rs201588451 0.00095
NM_001481.3(GAS8):c.1181T>A (p.Leu394Gln) rs142379631 0.00090
NM_001481.3(GAS8):c.1210C>T (p.Arg404Cys) rs143772256 0.00066
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.756+19G>T rs762219653 0.00021
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.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.54C>T (p.Val18=) rs185349515 0.00007
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.316C>G (p.Leu106Val) rs140344685 0.00006
NM_001481.3(GAS8):c.873C>T (p.Ser291=) rs762702389 0.00005
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.900C>T (p.Tyr300=) rs140624161 0.00004
NM_001481.3(GAS8):c.1122G>C (p.Leu374=) rs371059059 0.00003
NM_001481.3(GAS8):c.570T>C (p.Asp190=) rs370692093 0.00003
NM_001481.3(GAS8):c.1095C>T (p.Leu365=) rs368313356 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.654G>A (p.Gln218=) rs149327547 0.00002
NM_001481.3(GAS8):c.756+9C>T rs768853242 0.00002
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.147A>C (p.Arg49=) rs200939568 0.00001
NM_001481.3(GAS8):c.4-20C>T rs200553227 0.00001
NM_001481.3(GAS8):c.550+18T>C rs2036832585 0.00001
NM_001481.3(GAS8):c.678C>T (p.His226=) rs1008048501 0.00001
NM_001481.3(GAS8):c.717C>T (p.Asp239=) rs1765149285 0.00001
NM_001481.3(GAS8):c.91-20G>C rs747219840 0.00001
NM_001481.3(GAS8):c.987A>G (p.Glu329=) rs758642844 0.00001
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.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.117G>A (p.Arg39=)
NM_001481.3(GAS8):c.1221+10A>G
NM_001481.3(GAS8):c.1221+19C>G
NM_001481.3(GAS8):c.123G>A (p.Glu41=)
NM_001481.3(GAS8):c.1248C>T (p.Thr416=)
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.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.1394_1395inv (p.Thr465Met)
NM_001481.3(GAS8):c.1395A>C (p.Thr465=) rs3743825
NM_001481.3(GAS8):c.1410C>T (p.Pro470=)
NM_001481.3(GAS8):c.1425C>A (p.Gly475=)
NM_001481.3(GAS8):c.1434G>A (p.Thr478=)
NM_001481.3(GAS8):c.204G>A (p.Arg68=)
NM_001481.3(GAS8):c.245G>A (p.Arg82Gln) rs884928
NM_001481.3(GAS8):c.288+13G>A
NM_001481.3(GAS8):c.289-6C>T
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.357G>A (p.Glu119=)
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.42C>T (p.Gly14=) rs2151276637
NM_001481.3(GAS8):c.480G>C (p.Val160=)
NM_001481.3(GAS8):c.486C>T (p.Asn162=)
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.550+12G>A
NM_001481.3(GAS8):c.551-11C>T
NM_001481.3(GAS8):c.551-14C>G
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.63C>T (p.Leu21=)
NM_001481.3(GAS8):c.693C>T (p.Thr231=)
NM_001481.3(GAS8):c.714C>T (p.Asn238=)
NM_001481.3(GAS8):c.729C>T (p.Asn243=)
NM_001481.3(GAS8):c.741C>T (p.Leu247=)
NM_001481.3(GAS8):c.756+10G>A
NM_001481.3(GAS8):c.756+7T>C
NM_001481.3(GAS8):c.757-20G>T
NM_001481.3(GAS8):c.775C>A (p.Arg259=)
NM_001481.3(GAS8):c.828C>T (p.Asn276=)
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.91-17C>G
NM_001481.3(GAS8):c.924+20C>G
NM_001481.3(GAS8):c.925-16C>T
NM_001481.3(GAS8):c.927C>T (p.Cys309=)
NM_001481.3(GAS8):c.936C>G (p.Ala312=)
NM_001481.3(GAS8):c.975G>A (p.Gln325=)

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