ClinVar Miner

List of variants in gene KANSL1 reported as likely benign for Koolen de Vries syndrome

Included ClinVar conditions (1):
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Total variants: 38
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HGVS dbSNP
NM_001193466.2(KANSL1):c.1185A>G (p.Glu395=) rs199820469
NM_001193466.2(KANSL1):c.1189G>A (p.Ala397Thr) rs138565467
NM_001193466.2(KANSL1):c.1230G>A (p.Glu410=) rs777308407
NM_001193466.2(KANSL1):c.1269C>T (p.Pro423=) rs750165871
NM_001193466.2(KANSL1):c.1574C>G (p.Pro525Arg) rs144838667
NM_001193466.2(KANSL1):c.1590T>A (p.Ile530=) rs151329554
NM_001193466.2(KANSL1):c.1599A>G (p.Ser533=) rs1555746340
NM_001193466.2(KANSL1):c.1605T>C (p.Ser535=) rs200561483
NM_001193466.2(KANSL1):c.1652C>T (p.Thr551Ile) rs778178483
NM_001193466.2(KANSL1):c.1673A>T (p.Asp558Val) rs551923672
NM_001193466.2(KANSL1):c.1689C>T (p.Asp563=) rs113557856
NM_001193466.2(KANSL1):c.1857G>T (p.Arg619=) rs191986791
NM_001193466.2(KANSL1):c.1989T>C (p.Ser663=) rs368175458
NM_001193466.2(KANSL1):c.2230G>C (p.Asp744His) rs200103894
NM_001193466.2(KANSL1):c.2298A>G (p.Pro766=) rs367624499
NM_001193466.2(KANSL1):c.2322A>G (p.Pro774=) rs765777662
NM_001193466.2(KANSL1):c.2331C>T (p.Pro777=) rs139663254
NM_001193466.2(KANSL1):c.2502A>G (p.Ala834=) rs749802464
NM_001193466.2(KANSL1):c.2640G>A (p.Leu880=) rs773932947
NM_001193466.2(KANSL1):c.2718T>G (p.Asn906Lys) rs139615350
NM_001193466.2(KANSL1):c.2838-6G>T rs1555730956
NM_001193466.2(KANSL1):c.286T>C (p.Leu96=) rs140268765
NM_001193466.2(KANSL1):c.2913C>A (p.Ser971=) rs781514778
NM_001193466.2(KANSL1):c.2984C>T (p.Pro995Leu) rs761819132
NM_001193466.2(KANSL1):c.3170A>G (p.Gln1057Arg) rs201083879
NM_001193466.2(KANSL1):c.3279G>T (p.Leu1093=) rs1404523701
NM_001193466.2(KANSL1):c.327A>G (p.Lys109=) rs749575109
NM_001193466.2(KANSL1):c.498A>C (p.Thr166=) rs141491325
NM_001193466.2(KANSL1):c.525C>T (p.Ser175=) rs148321376
NM_001193466.2(KANSL1):c.530A>G (p.Asn177Ser) rs765213873
NM_001193466.2(KANSL1):c.531T>C (p.Asn177=) rs759846708
NM_001193466.2(KANSL1):c.680G>A (p.Ser227Asn) rs150345690
NM_001193466.2(KANSL1):c.688A>G (p.Asn230Asp) rs34756740
NM_001193466.2(KANSL1):c.727C>A (p.Gln243Lys) rs142096969
NM_001193466.2(KANSL1):c.767C>T (p.Ser256Phe) rs537773238
NM_001193466.2(KANSL1):c.783C>G (p.Val261=) rs1555575518
NM_001193466.2(KANSL1):c.849G>A (p.Arg283=) rs754362361
NM_001193466.2(KANSL1):c.963G>A (p.Leu321=) rs772111208

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