ClinVar Miner

List of variants in gene AHI1 reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001134831.2(AHI1):c.1780-14C>T rs2757645 0.81825
NM_001134831.2(AHI1):c.3426+13G>A rs6914831 0.59084
NM_001134831.2(AHI1):c.2624-6A>G rs41288015 0.01635
NM_001134831.2(AHI1):c.2660A>G (p.Lys887Arg) rs200355875 0.00003
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013 0.00001
NM_001134831.2(AHI1):c.2258A>T (p.Asp753Val) rs1562758269

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