ClinVar Miner

List of variants in gene AHI1 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995 0.02035
NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe) rs117447608 0.00497
NM_001134831.2(AHI1):c.2714G>C (p.Cys905Ser) rs199879855 0.00144
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_001134831.2(AHI1):c.1013T>G (p.Leu338Trp) rs201790260 0.00033
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter) rs780163791 0.00013
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter) rs777668842 0.00012
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys) rs183936286 0.00009
NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter) rs863225138 0.00002
NM_001134831.2(AHI1):c.1235A>G (p.Gln412Arg) rs1264460804 0.00001
NM_001134831.2(AHI1):c.2105C>T (p.Thr702Met) rs756276537 0.00001
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter) rs1270654737 0.00001
NM_001134831.2(AHI1):c.736A>T (p.Lys246Ter) rs863225142 0.00001
NC_000006.11:g.(135679326_135715913)_(135732683_135748304)del
NC_000006.11:g.(135726116_135732485)_(135818904_?)dup
NC_000006.11:g.(135754395_135759512)_(135759637_135763719)del
NM_001134831.2(AHI1):c.1671del (p.Gly558fs) rs2128056526
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro) rs374009466
NM_001134831.2(AHI1):c.1983del (p.Trp662fs) rs1459452503
NM_001134831.2(AHI1):c.1985G>A (p.Trp662Ter)
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg) rs863225144
NM_001134831.2(AHI1):c.2388_2389del (p.Glu797fs)
NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter) rs863225131
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001134831.2(AHI1):c.3426+2T>C
NM_001134831.2(AHI1):c.3484C>T (p.His1162Tyr)
NM_001134831.2(AHI1):c.910dup (p.Thr304fs) rs753874898
NM_001134831.2(AHI1):c.917del (p.Lys306fs) rs1181159671

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