ClinVar Miner

List of variants in gene AHI1 reported by Mendelics

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Total variants: 7
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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.3196C>T (p.Arg1066Ter) rs780163791 0.00013
NM_001134831.2(AHI1):c.1205del (p.Pro402fs) rs794729195
NM_001134831.2(AHI1):c.1779G>T (p.Gln593His) rs1583276758
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro) rs374009466
NM_001134831.2(AHI1):c.2623+1G>T rs751823180
NM_001134831.2(AHI1):c.2742del (p.Leu915fs) rs1583179845

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