ClinVar Miner

List of variants in gene KANSL1 reported as uncertain significance for Syndromic intellectual disability

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Total variants: 38
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HGVS dbSNP
NM_001193466.2(KANSL1):c.*1022C>G rs748062988
NM_001193466.2(KANSL1):c.*1103dup rs142756815
NM_001193466.2(KANSL1):c.*1234_*1235dup rs140510364
NM_001193466.2(KANSL1):c.*1287G>T rs886053064
NM_001193466.2(KANSL1):c.*1306C>G rs886053063
NM_001193466.2(KANSL1):c.*1350A>C rs886053062
NM_001193466.2(KANSL1):c.*1354dup rs67641084
NM_001193466.2(KANSL1):c.*1433A>G rs886053060
NM_001193466.2(KANSL1):c.*1434T>C rs886053059
NM_001193466.2(KANSL1):c.*1520dup rs67801660
NM_001193466.2(KANSL1):c.*1551del rs767830420
NM_001193466.2(KANSL1):c.*28_*31ACTA[1] rs767896466
NM_001193466.2(KANSL1):c.*608C>G rs886053067
NM_001193466.2(KANSL1):c.*637T>G rs886053066
NM_001193466.2(KANSL1):c.*816C>T rs886053065
NM_001193466.2(KANSL1):c.*954C>G rs150500194
NM_001193466.2(KANSL1):c.-279G>A rs886053071
NM_001193466.2(KANSL1):c.1124C>T (p.Ser375Leu) rs142696045
NM_001193466.2(KANSL1):c.1162A>G (p.Ile388Val) rs767398590
NM_001193466.2(KANSL1):c.1166C>T (p.Ala389Val) rs368394693
NM_001193466.2(KANSL1):c.1432-4G>A rs749329088
NM_001193466.2(KANSL1):c.1653-6G>A rs369261388
NM_001193466.2(KANSL1):c.1676A>G (p.His559Arg) rs886053069
NM_001193466.2(KANSL1):c.1831G>A (p.Val611Ile) rs202150313
NM_001193466.2(KANSL1):c.1857G>T (p.Arg619=) rs191986791
NM_001193466.2(KANSL1):c.1940A>G (p.Glu647Gly) rs886053068
NM_001193466.2(KANSL1):c.1945C>G (p.His649Asp) rs759914921
NM_001193466.2(KANSL1):c.2256C>T (p.Asp752=) rs760224197
NM_001193466.2(KANSL1):c.2287G>T (p.Val763Leu) rs781594360
NM_001193466.2(KANSL1):c.2441C>G (p.Thr814Ser) rs757031050
NM_001193466.2(KANSL1):c.2547G>A (p.Gln849=) rs763362339
NM_001193466.2(KANSL1):c.296A>G (p.Gln99Arg) rs754727332
NM_001193466.2(KANSL1):c.3091-15C>A rs565665710
NM_001193466.2(KANSL1):c.431G>A (p.Ser144Asn) rs886053070
NM_001193466.2(KANSL1):c.608G>A (p.Gly203Glu) rs759522694
NM_001193466.2(KANSL1):c.611G>T (p.Gly204Val) rs766643723
NM_001193466.2(KANSL1):c.701T>C (p.Val234Ala) rs199948200
NM_015443.3(KANSL1):c.-90+19C>G rs1057516026

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