List of variants in gene ALMS1 reported as pathogenic by Counsyl

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs)	rs387906312	0.00004
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs)	rs797045228	0.00002
NM_001378454.1(ALMS1):c.11648_11649insGTTA (p.Asn3884fs)	rs760264695	0.00001
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter)	rs772136379	0.00001
NM_001378454.1(ALMS1):c.10787_10788del (p.Val3596fs)	rs1218465638
NM_001378454.1(ALMS1):c.10828_10829del (p.Arg3610fs)	rs755616266
NM_001378454.1(ALMS1):c.11204C>A (p.Ser3735Ter)	rs367877017
NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs)	rs747272625
NM_001378454.1(ALMS1):c.11382del (p.Phe3794fs)	rs768759374
NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs)	rs1476205467
NM_001378454.1(ALMS1):c.4914_4917del (p.Asn1638fs)	rs779366889
NM_001378454.1(ALMS1):c.5627dup (p.Gly1877fs)	rs1553404109
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter)	rs770558150
NM_001378454.1(ALMS1):c.6568_6571del (p.Ser2190fs)	rs1034630858
NM_001378454.1(ALMS1):c.6587del (p.Lys2196fs)	rs1553404283
NM_001378454.1(ALMS1):c.7372_7373del (p.Thr2457_Asp2458insTer)	rs1225343345
NM_001378454.1(ALMS1):c.8391dup (p.Leu2798fs)	rs1553409715

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