List of variants in gene ALMS1 reported as uncertain significance by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His)	rs201252809	0.00057
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val)	rs201819880	0.00048
NM_001378454.1(ALMS1):c.821G>A (p.Ser274Asn)	rs767513098	0.00002
NM_001378454.1(ALMS1):c.9029T>C (p.Ile3010Thr)	rs780894681	0.00001
NM_001378454.1(ALMS1):c.11667A>G (p.Ala3889=)	rs767848384
NM_001378454.1(ALMS1):c.2683_2685del (p.Asp895del)	rs763288832
NM_001378454.1(ALMS1):c.7507G>T (p.Ala2503Ser)	rs202060439
NM_001378454.1(ALMS1):c.9616A>G (p.Thr3206Ala)	rs878853092

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