List of variants in gene AHI1 reported as likely pathogenic for Retinal dystrophy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001134831.2(AHI1):c.1811C>G (p.Ser604Ter)	rs781198326
NM_001134831.2(AHI1):c.2250_2251del (p.Cys751fs)	rs1784887448
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter)	rs1355690902
NM_001134831.2(AHI1):c.2988del (p.Val997fs)	rs755246809
NM_001134831.2(AHI1):c.703dup (p.Arg235fs)	rs1336317768

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