List of variants in gene ALMS1 reported as likely benign for digestive system disorder

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: 35

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HGVS	dbSNP	gnomAD frequency
NM_001378454.1(ALMS1):c.6007A>G (p.Ile2003Val)	rs7587103	0.00394
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu)	rs144486524	0.00310
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile)	rs45630557	0.00285
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile)	rs188807564	0.00267
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp)	rs148040591	0.00225
NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro)	rs149096794	0.00163
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys)	rs199573929	0.00146
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr)	rs142278066	0.00102
NM_001378454.1(ALMS1):c.11407C>T (p.Pro3803Ser)	rs189032342	0.00097
NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser)	rs199874928	0.00078
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val)	rs78102263	0.00071
NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu)	rs200266868	0.00064
NM_001378454.1(ALMS1):c.611A>C (p.Glu204Ala)	rs200054604	0.00048
NM_001378454.1(ALMS1):c.4222G>A (p.Val1408Ile)	rs200529564	0.00042
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val)	rs202111717	0.00041
NM_001378454.1(ALMS1):c.4316A>C (p.Tyr1439Ser)	rs201971114	0.00037
NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro)	rs201213079	0.00026
NM_001378454.1(ALMS1):c.5918C>A (p.Pro1973Gln)	rs199615641	0.00022
NM_001378454.1(ALMS1):c.3812C>A (p.Pro1271Gln)	rs372563916	0.00017
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg)	rs200586877	0.00017
NM_001378454.1(ALMS1):c.601C>G (p.Gln201Glu)	rs376989302	0.00013
NM_001378454.1(ALMS1):c.6361G>C (p.Val2121Leu)	rs200368564	0.00013
NM_001378454.1(ALMS1):c.3464A>C (p.His1155Pro)	rs553406974	0.00004
NM_001378454.1(ALMS1):c.8257C>A (p.His2753Asn)	rs200718841	0.00003
NM_001378454.1(ALMS1):c.3002G>T (p.Gly1001Val)	rs773630367	0.00002
NM_001378454.1(ALMS1):c.2212G>A (p.Glu738Lys)	rs1057524883	0.00001
NM_001378454.1(ALMS1):c.4163C>T (p.Pro1388Leu)	rs377354387	0.00001
NM_001378454.1(ALMS1):c.6037G>T (p.Ala2013Ser)	rs1057524884	0.00001
NM_001378454.1(ALMS1):c.8117A>G (p.Glu2706Gly)	rs768090632	0.00001
NM_001378454.1(ALMS1):c.11323C>G (p.Leu3775Val)	rs771595125
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly)	rs115444326
NM_001378454.1(ALMS1):c.2973G>T (p.Lys991Asn)	rs1444578140
NM_001378454.1(ALMS1):c.4250G>A (p.Arg1417Gln)	rs771362238
NM_001378454.1(ALMS1):c.9112C>G (p.Pro3038Ala)	rs370622410
NM_001378454.1(ALMS1):c.9779A>C (p.Asp3260Ala)	rs745518051

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