Variants in gene ALMS1 with conflicting interpretations "pathogenic" and "uncertain significance"

Submission 1 (pathogenic) minimum review status:		Submission 1 (pathogenic) method:
Submission 2 (uncertain significance) minimum review status:		Submission 2 (uncertain significance) 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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001378454.1(ALMS1):c.11407C>T (p.Pro3803Ser)	rs189032342	0.00097
NM_001378454.1(ALMS1):c.427C>T (p.Gln143Ter)	rs150825781	0.00004
NM_001378454.1(ALMS1):c.8161C>T (p.Arg2721Ter)	rs193919340	0.00002

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