ClinVar Miner

List of variants in gene KANSL1 reported as pathogenic by GeneReviews

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Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_001193466.1(KANSL1):c.1652+1G>A rs281865470
NM_001193466.1(KANSL1):c.1816C>T (p.Arg606Ter) rs281865469
NM_001193466.1(KANSL1):c.1867_1870delATCC (p.Ile623Alafs) rs281865472
NM_001193466.1(KANSL1):c.2785_2786delAG (p.Arg929Glyfs) rs281865471
NM_001193466.1(KANSL1):c.916C>T (p.Gln306Ter) rs281865468
NM_001193466.1(KANSL1):c.985_986delTT (p.Leu329Glufs) rs281865473

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