List of variants in gene ALMS1 reported by Stanford Center for Inherited Cardiovascular Disease, Stanford University

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val)	rs73945001	0.00195
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys)	rs199573929	0.00146
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His)	rs201252809	0.00057
NM_001378454.1(ALMS1):c.9712C>T (p.Arg3238Cys)	rs201252375	0.00053
NM_001378454.1(ALMS1):c.6299A>T (p.Lys2100Ile)	rs373286582	0.00005
NM_001378454.1(ALMS1):c.6707C>T (p.Pro2236Leu)	rs201737248	0.00003
NM_001378454.1(ALMS1):c.8920C>T (p.Pro2974Ser)	rs1043429291	0.00003
NM_001378454.1(ALMS1):c.1006T>C (p.Cys336Arg)	rs746923506	0.00001
NM_001378454.1(ALMS1):c.354A>G (p.Gln118=)	rs531782624

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