List of variants in gene AHI1 reported as likely pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter)	rs777215595	0.00005
NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val)	rs863225147	0.00004
NM_001134831.2(AHI1):c.3235C>T (p.Arg1079Ter)	rs761732432	0.00002
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.2266G>T (p.Gly756Cys)	rs376754552	0.00001
NM_001134831.2(AHI1):c.101del (p.Lys34fs)
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.2012C>T (p.Thr671Ile)	rs772989270
NM_001134831.2(AHI1):c.2156A>G (p.Asp719Gly)	rs863225134
NM_001134831.2(AHI1):c.2956_2957del (p.Val986fs)
NM_001134831.2(AHI1):c.3059dup (p.Asn1020fs)	rs1463748841
NM_001134831.2(AHI1):c.72_85del (p.Ser24fs)	rs780910490
NM_001134831.2(AHI1):c.96dup (p.Leu33fs)	rs747322175

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