Variants in gene AHI1 with conflicting interpretations "uncertain significance" and "pathogenic"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (pathogenic) minimum review status:		Submission 2 (pathogenic) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 6

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HGVS	dbSNP	gnomAD frequency
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)	rs121434351	0.00003
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)	rs587783013	0.00001
GRCh37/hg19 6q23.3(chr6:135711485-135735779)x1
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg)	rs863225144
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu)	rs794727174
NM_001134831.2(AHI1):c.2988del (p.Val997fs)	rs755246809

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