ClinVar Miner

List of variants in gene AHI1 reported as likely pathogenic by GeneDx

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val) rs863225147 0.00004
NM_001134831.2(AHI1):c.1301T>C (p.Leu434Pro) rs771603649 0.00001
NM_001134831.2(AHI1):c.1626+1G>A rs863225137 0.00001
NM_001134831.2(AHI1):c.2105C>T (p.Thr702Met) rs756276537 0.00001
NM_001134831.2(AHI1):c.1205C>T (p.Pro402Leu) rs1057524842
NM_001134831.2(AHI1):c.1242_1243del (p.Lys414fs) rs1554209758
NM_001134831.2(AHI1):c.2156A>G (p.Asp719Gly) rs863225134
NM_001134831.2(AHI1):c.630_633del (p.Lys210fs) rs776569081
NM_001134831.2(AHI1):c.72_85del (p.Ser24fs) rs780910490
NM_001134831.2(AHI1):c.96dup (p.Leu33fs) rs747322175

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