List of variants in gene ALMS1 reported as pathogenic by Eurofins NTD LLC (GA)

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs)	rs387906312	0.00004
NM_001378454.1(ALMS1):c.3572del (p.Phe1191fs)	rs1558648759
NM_001378454.1(ALMS1):c.7654del (p.Arg2552fs)	rs1553404662
NM_001378454.1(ALMS1):c.8005C>T (p.Arg2669Ter)	rs549857076

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