ClinVar Miner

List of variants in gene ALG13 reported as uncertain significance by Invitae

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Total variants: 64
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HGVS dbSNP
NM_001099922.3(ALG13):c.1144A>G (p.Lys382Glu)
NM_001099922.3(ALG13):c.1217C>T (p.Ala406Val) rs1057522541
NM_001099922.3(ALG13):c.1476G>C (p.Gln492His) rs760560180
NM_001099922.3(ALG13):c.1619C>T (p.Ala540Val) rs1234385710
NM_001099922.3(ALG13):c.1643T>C (p.Val548Ala)
NM_001099922.3(ALG13):c.1661G>T (p.Trp554Leu)
NM_001099922.3(ALG13):c.1831C>T (p.Leu611Phe) rs199505558
NM_001099922.3(ALG13):c.1834C>T (p.Pro612Ser) rs200516126
NM_001099922.3(ALG13):c.1853G>C (p.Ser618Thr) rs1194966893
NM_001099922.3(ALG13):c.1895C>G (p.Thr632Arg) rs1602745141
NM_001099922.3(ALG13):c.1955G>A (p.Gly652Asp) rs372209528
NM_001099922.3(ALG13):c.1977G>A (p.Arg659=)
NM_001099922.3(ALG13):c.2077T>A (p.Ser693Thr)
NM_001099922.3(ALG13):c.2078C>T (p.Ser693Phe) rs919912146
NM_001099922.3(ALG13):c.2089C>T (p.Arg697Cys) rs1376010208
NM_001099922.3(ALG13):c.2213A>G (p.Glu738Gly) rs374174400
NM_001099922.3(ALG13):c.2260C>T (p.Pro754Ser) rs775045681
NM_001099922.3(ALG13):c.2316C>G (p.Ser772Arg) rs1556509706
NM_001099922.3(ALG13):c.2368+10T>G rs1556509952
NM_001099922.3(ALG13):c.2372G>A (p.Arg791Gln) rs374290658
NM_001099922.3(ALG13):c.2396G>A (p.Arg799His) rs1441099792
NM_001099922.3(ALG13):c.2403G>C (p.Glu801Asp) rs778396216
NM_001099922.3(ALG13):c.2503G>A (p.Val835Ile)
NM_001099922.3(ALG13):c.2519A>G (p.Tyr840Cys) rs1602807307
NM_001099922.3(ALG13):c.2529+5T>C rs749420976
NM_001099922.3(ALG13):c.2564G>A (p.Cys855Tyr)
NM_001099922.3(ALG13):c.2570A>G (p.Asn857Ser) rs1556516921
NM_001099922.3(ALG13):c.2587G>T (p.Val863Phe) rs1556516959
NM_001099922.3(ALG13):c.2594C>T (p.Ser865Phe) rs755213977
NM_001099922.3(ALG13):c.2650_2652dup (p.Ala884dup) rs1276026793
NM_001099922.3(ALG13):c.2651C>T (p.Ala884Val) rs1556517111
NM_001099922.3(ALG13):c.2686G>A (p.Gly896Ser) rs972892187
NM_001099922.3(ALG13):c.2754_2756ACC[19] (p.Pro942_Pro945dup)
NM_001099922.3(ALG13):c.2754_2756ACC[21] (p.Pro940_Pro945dup)
NM_001099922.3(ALG13):c.2796_2801del (p.Pro944_Pro945del) rs1468160803
NM_001099922.3(ALG13):c.2797_2799CCT[12] (p.Pro945del) rs56717389
NM_001099922.3(ALG13):c.2870_2872CAC[5] (p.Pro960dup)
NM_001099922.3(ALG13):c.2975G>A (p.Cys992Tyr) rs190790872
NM_001099922.3(ALG13):c.3017A>G (p.Gln1006Arg) rs753692221
NM_001099922.3(ALG13):c.3130G>A (p.Ala1044Thr) rs1064796719
NM_001099922.3(ALG13):c.3145A>G (p.Asn1049Asp) rs759347694
NM_001099922.3(ALG13):c.3190G>A (p.Ala1064Thr)
NM_001099922.3(ALG13):c.3241G>A (p.Gly1081Ser) rs760819207
NM_001099922.3(ALG13):c.3251C>A (p.Ser1084Tyr)
NM_001099922.3(ALG13):c.3330A>G (p.Gln1110=) rs761412613
NM_001099922.3(ALG13):c.3349C>G (p.Pro1117Ala) rs1603004235
NM_001099922.3(ALG13):c.3404A>G (p.Gln1135Arg) rs771207661
NM_001099922.3(ALG13):c.350A>T (p.His117Leu) rs754497897
NM_001099922.3(ALG13):c.373T>G (p.Cys125Gly) rs1556449735
NM_001099922.3(ALG13):c.388C>G (p.Leu130Val)
NM_001099922.3(ALG13):c.403C>G (p.Gln135Glu) rs1602635058
NM_001099922.3(ALG13):c.43G>A (p.Asp15Asn)
NM_001099922.3(ALG13):c.43G>T (p.Asp15Tyr)
NM_001099922.3(ALG13):c.452C>T (p.Ala151Val) rs1060500008
NM_001099922.3(ALG13):c.52_54dup (p.Ala18dup)
NM_001099922.3(ALG13):c.541A>T (p.Thr181Ser) rs774646647
NM_001099922.3(ALG13):c.621A>T (p.Gly207=)
NM_001099922.3(ALG13):c.662C>T (p.Ser221Leu) rs1602636547
NM_001099922.3(ALG13):c.680G>A (p.Gly227Asp)
NM_001099922.3(ALG13):c.716A>G (p.Asp239Gly)
NM_001099922.3(ALG13):c.756T>G (p.Phe252Leu) rs915629293
NM_001099922.3(ALG13):c.889A>T (p.Ser297Cys) rs372176416
NM_001099922.3(ALG13):c.952C>G (p.Arg318Gly) rs775191661
NM_001099922.3(ALG13):c.952C>T (p.Arg318Cys) rs775191661

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