ClinVar Miner

List of variants reported as likely benign for Alstrom syndrome by Natera, Inc.

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Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP
NM_001378454.1(ALMS1):c.10038C>T (p.Ser3346=) rs375436336
NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala) rs200467041
NM_001378454.1(ALMS1):c.10788G>C (p.Val3596=) rs45445398
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His) rs142558799
NM_001378454.1(ALMS1):c.11070C>T (p.Gly3690=) rs371329585
NM_001378454.1(ALMS1):c.11328C>T (p.His3776=) rs45596541
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val) rs201819880
NM_001378454.1(ALMS1):c.11463G>A (p.Glu3821=) rs750087396
NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser) rs199874928
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val) rs201728850
NM_001378454.1(ALMS1):c.12036C>T (p.Asp4012=) rs370981817
NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=) rs199603690
NM_001378454.1(ALMS1):c.12354G>A (p.Arg4118=) rs546745992
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929
NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=) rs750362630
NM_001378454.1(ALMS1):c.2122A>G (p.Thr708Ala) rs571389435
NM_001378454.1(ALMS1):c.2187G>A (p.Glu729=) rs536950181
NM_001378454.1(ALMS1):c.2285G>C (p.Ser762Thr)
NM_001378454.1(ALMS1):c.2764C>T (p.Leu922=) rs143885319
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser) rs199922877
NM_001378454.1(ALMS1):c.315C>T (p.Ser105=) rs754611450
NM_001378454.1(ALMS1):c.3974T>G (p.Val1325Gly)
NM_001378454.1(ALMS1):c.4049A>G (p.His1350Arg)
NM_001378454.1(ALMS1):c.4134T>C (p.Ser1378=) rs200491758
NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala) rs199649563
NM_001378454.1(ALMS1):c.4329G>T (p.Leu1443Phe) rs192499639
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val) rs78102263
NM_001378454.1(ALMS1):c.451-5T>G rs774098604
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu)
NM_001378454.1(ALMS1):c.5765T>C (p.Val1922Ala)
NM_001378454.1(ALMS1):c.5827C>T (p.Arg1943Cys) rs370398704
NM_001378454.1(ALMS1):c.5828G>A (p.Arg1943His) rs146669152
NM_001378454.1(ALMS1):c.6145T>A (p.Ser2049Thr) rs17848882
NM_001378454.1(ALMS1):c.7976C>G (p.Pro2659Arg) rs537509954
NM_001378454.1(ALMS1):c.8918C>T (p.Ala2973Val) rs202110907
NM_001378454.1(ALMS1):c.9381C>T (p.Val3127=) rs754743943
NM_001378454.1(ALMS1):c.9538C>G (p.Arg3180Gly) rs563393715
NM_001378454.1(ALMS1):c.9617C>T (p.Thr3206Ile) rs201624771
NM_001378454.1(ALMS1):c.9712C>T (p.Arg3238Cys) rs201252375
NM_001378454.1(ALMS1):c.9843A>G (p.Gln3281=) rs1573000980

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