List of variants in gene combination ALMS1, LOC126806252 reported as likely pathogenic for autosomal recessive disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp)	rs200897773	0.00040
NM_001378454.1(ALMS1):c.11943T>A (p.Cys3981Ter)
NM_001378454.1(ALMS1):c.12075del (p.Arg4026fs)	rs1553421739
NM_001378454.1(ALMS1):c.12083_12086del (p.Leu4028fs)	rs1553421741
NM_001378454.1(ALMS1):c.12104_12105del (p.Ala4035fs)	rs1553421752
NM_001378454.1(ALMS1):c.12114+1G>A
NM_001378454.1(ALMS1):c.12114+1G>T	rs376719320
NM_001378454.1(ALMS1):c.12115-1G>T	rs769160407
NM_001378454.1(ALMS1):c.12115-2A>T	rs1394193524
NM_001378454.1(ALMS1):c.12151_12163del (p.Arg4051fs)	rs1675709881
NM_001378454.1(ALMS1):c.12175_12177delinsTT (p.Lys4060fs)	rs1553421886
NM_001378454.1(ALMS1):c.12193G>T (p.Glu4065Ter)

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