ClinVar Miner

List of variants in gene AHI1 reported as likely pathogenic for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter) rs780163791 0.00013
NM_001134831.2(AHI1):c.136-2A>G rs776579906 0.00011
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter) rs777215595 0.00005
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_001134831.2(AHI1):c.3235C>T (p.Arg1079Ter) rs761732432 0.00002
NM_001134831.2(AHI1):c.533_534del (p.Glu178fs) rs759593846 0.00002
NM_001134831.2(AHI1):c.1483C>T (p.Arg495Cys) rs891261493 0.00001
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013 0.00001
NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys) rs376754552 0.00001
NM_001134831.2(AHI1):c.2582G>A (p.Gly861Glu) rs1217172210 0.00001
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter) rs1270654737 0.00001
GRCh37/hg19 6q23.3(chr6:135715893-135732702)
NC_000006.11:g.(?_135679250)_(135679345_?)dup
NC_000006.12:g.(?_135394756)_(135411564_?)del
NM_001134831.2(AHI1):c.1094dup (p.Met365fs) rs2128081478
NM_001134831.2(AHI1):c.11-1G>C
NM_001134831.2(AHI1):c.1148A>G (p.Asp383Gly) rs1789162289
NM_001134831.2(AHI1):c.1151+1G>A rs2128081334
NM_001134831.2(AHI1):c.1205del (p.Pro402fs) rs794729195
NM_001134831.2(AHI1):c.1270del (p.Ile424fs) rs1788846426
NM_001134831.2(AHI1):c.136-1G>A rs2128100946
NM_001134831.2(AHI1):c.1493T>C (p.Leu498Pro) rs2128059170
NM_001134831.2(AHI1):c.1779+1G>A
NM_001134831.2(AHI1):c.1779+1G>T
NM_001134831.2(AHI1):c.1779G>T (p.Gln593His) rs1583276758
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs) rs1786504555
NM_001134831.2(AHI1):c.1840dup (p.Cys614fs) rs1163874095
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter) rs797045223
NM_001134831.2(AHI1):c.1913-1G>A
NM_001134831.2(AHI1):c.2037-1G>C rs1784918128
NM_001134831.2(AHI1):c.2087A>G (p.His696Arg) rs797045224
NM_001134831.2(AHI1):c.2155G>C (p.Asp719His)
NM_001134831.2(AHI1):c.2167C>G (p.Arg723Gly)
NM_001134831.2(AHI1):c.2483A>C (p.Asp828Ala) rs1784406093
NM_001134831.2(AHI1):c.2492+5G>A rs2128012406
NM_001134831.2(AHI1):c.2493-1G>T
NM_001134831.2(AHI1):c.2624-2A>G
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter) rs1355690902
NM_001134831.2(AHI1):c.2760_2764+2del
NM_001134831.2(AHI1):c.2764+2T>C
NM_001134831.2(AHI1):c.2961+1G>A
NM_001134831.2(AHI1):c.2961+2T>G rs2127973751
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001134831.2(AHI1):c.2989-2A>G rs2128485171
NM_001134831.2(AHI1):c.2989-2A>T
NM_001134831.2(AHI1):c.3105_3106del (p.Gln1035fs)
NM_001134831.2(AHI1):c.3110-1G>A
NM_001134831.2(AHI1):c.3110-2A>G
NM_001134831.2(AHI1):c.3140del (p.Asn1047fs)
NM_001134831.2(AHI1):c.3166-1G>T
NM_001134831.2(AHI1):c.3426+2T>C
NM_001134831.2(AHI1):c.3427-1G>A
NM_001134831.2(AHI1):c.3486-2A>T
NM_001134831.2(AHI1):c.430del (p.Glu144fs) rs2128098409
NM_001134831.2(AHI1):c.72_85del (p.Ser24fs) rs780910490
NM_001134831.2(AHI1):c.749+1G>C rs780069818
NM_001134831.2(AHI1):c.750-1G>A
NM_001134831.2(AHI1):c.750-2A>G
NM_001134831.2(AHI1):c.932-2_932del
NM_017651.4(AHI1):c.[2561G>T];[3368C>T]

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