ClinVar Miner

List of variants in gene ALMS1 reported as likely benign by Invitae

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Gene type:
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Total variants: 55
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HGVS dbSNP
NM_015120.4(ALMS1):c.10241A>G (p.Glu3414Gly) rs184779459
NM_015120.4(ALMS1):c.10754A>T (p.Gln3585Leu) rs144486524
NM_015120.4(ALMS1):c.10791G>C (p.Val3597=) rs45445398
NM_015120.4(ALMS1):c.10869A>G (p.Glu3623=) rs377601961
NM_015120.4(ALMS1):c.11226G>A (p.Glu3742=) rs28730859
NM_015120.4(ALMS1):c.11410C>T (p.Pro3804Ser) rs189032342
NM_015120.4(ALMS1):c.11768A>G (p.Asn3923Ser) rs199874928
NM_015120.4(ALMS1):c.12225C>T (p.Thr4075=) rs199638718
NM_015120.4(ALMS1):c.12288G>A (p.Pro4096=) rs776912137
NM_015120.4(ALMS1):c.1241-9A>G rs372652836
NM_015120.4(ALMS1):c.1929C>T (p.Thr643=) rs745591025
NM_015120.4(ALMS1):c.1995A>G (p.Val665=) rs894774935
NM_015120.4(ALMS1):c.2097G>A (p.Val699=) rs200535382
NM_015120.4(ALMS1):c.2097G>T (p.Val699=) rs200535382
NM_015120.4(ALMS1):c.3314G>A (p.Gly1105Asp) rs201074268
NM_015120.4(ALMS1):c.3333C>T (p.Thr1111=) rs749570443
NM_015120.4(ALMS1):c.36_38GGA[18] (p.Glu26_Glu29dup) rs55889738
NM_015120.4(ALMS1):c.3735G>A (p.Lys1245=) rs140670994
NM_015120.4(ALMS1):c.3945A>C (p.Ser1315=) rs186449817
NM_015120.4(ALMS1):c.3948G>A (p.Ala1316=) rs201474138
NM_015120.4(ALMS1):c.4152A>G (p.Gln1384=) rs370508895
NM_015120.4(ALMS1):c.4332G>T (p.Leu1444Phe) rs192499639
NM_015120.4(ALMS1):c.4344T>C (p.His1448=) rs770081169
NM_015120.4(ALMS1):c.4347A>G (p.Leu1449=) rs200459890
NM_015120.4(ALMS1):c.4403G>T (p.Gly1468Val) rs78102263
NM_015120.4(ALMS1):c.454-5T>G rs774098604
NM_015120.4(ALMS1):c.474T>C (p.Cys158=) rs367648094
NM_015120.4(ALMS1):c.4761A>G (p.Pro1587=) rs778600773
NM_015120.4(ALMS1):c.4902A>G (p.Leu1634=) rs1060503816
NM_015120.4(ALMS1):c.4905C>T (p.Asp1635=) rs1553403951
NM_015120.4(ALMS1):c.4991C>T (p.Thr1664Ile) rs188807564
NM_015120.4(ALMS1):c.5192A>G (p.Glu1731Gly) rs201390755
NM_015120.4(ALMS1):c.5559A>G (p.Pro1853=) rs372017680
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) rs149096794
NM_015120.4(ALMS1):c.63G>A (p.Glu21=) rs183407241
NM_015120.4(ALMS1):c.6843T>G (p.Pro2281=) rs45580837
NM_015120.4(ALMS1):c.7023G>A (p.Thr2341=) rs760756852
NM_015120.4(ALMS1):c.7544-8C>T rs1553404629
NM_015120.4(ALMS1):c.762T>A (p.Pro254=) rs201478438
NM_015120.4(ALMS1):c.7713A>C (p.Pro2571=) rs750225944
NM_015120.4(ALMS1):c.825T>C (p.Ser275=) rs145009331
NM_015120.4(ALMS1):c.8277A>G (p.Gln2759=) rs181226362
NM_015120.4(ALMS1):c.8448A>G (p.Ser2816=) rs137932254
NM_015120.4(ALMS1):c.861A>G (p.Ser287=) rs748158586
NM_015120.4(ALMS1):c.864C>T (p.Asp288=) rs377281121
NM_015120.4(ALMS1):c.8814T>C (p.Tyr2938=) rs541559170
NM_015120.4(ALMS1):c.9279G>A (p.Ser3093=) rs1462656920
NM_015120.4(ALMS1):c.948T>C (p.Ser316=) rs183390773
NM_015120.4(ALMS1):c.9615A>C (p.Ile3205=) rs755456619
NM_015120.4(ALMS1):c.9620C>T (p.Thr3207Ile) rs201624771
NM_015120.4(ALMS1):c.9744A>G (p.Ser3248=) rs370844317
NM_015120.4(ALMS1):c.9780A>C (p.Thr3260=) rs183325464
NM_015120.4(ALMS1):c.9864A>G (p.Pro3288=) rs114687298
NM_015120.4(ALMS1):c.9883G>C (p.Asp3295His) rs200441305
NM_015120.4(ALMS1):c.9889A>G (p.Thr3297Ala) rs58806616

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