List of variants in gene ALMS1 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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.1732del (p.Arg578fs)	rs777476179	0.00001
NM_001378454.1(ALMS1):c.10146dup (p.Ser3383fs)	rs1553416872
NM_001378454.1(ALMS1):c.1625T>A (p.Leu542Ter)	rs1347176614
NM_001378454.1(ALMS1):c.8414dup (p.Gln2807fs)	rs1057519133

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