List of variants in gene ALMS1 reported as pathogenic by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter)	rs772624348	0.00004
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs)	rs777476179	0.00001
NM_001378454.1(ALMS1):c.10262del (p.Pro3421fs)	rs2104063769
NM_001378454.1(ALMS1):c.10578del (p.Met3526fs)	rs2104104304
NM_001378454.1(ALMS1):c.3197_3200del (p.Asp1066fs)	rs2103777977
NM_001378454.1(ALMS1):c.6568_6571del (p.Ser2190fs)	rs1034630858

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