ClinVar Miner

List of variants in gene KANSL1 studied for Syndromic intellectual disability

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_015443.4(KANSL1):c.-90+8C>T rs72836333 0.35522
NM_015443.4(KANSL1):c.*954C>G rs150500194 0.00393
NM_015443.4(KANSL1):c.*1103dup rs142756815
NM_015443.4(KANSL1):c.*1234_*1235dup rs140510364
NM_015443.4(KANSL1):c.*1354dup rs67641084
NM_015443.4(KANSL1):c.*1520dup rs67801660
NM_015443.4(KANSL1):c.*1551del rs767830420
NM_015443.4(KANSL1):c.*28ACTA[1] rs767896466
NM_015443.4(KANSL1):c.-90+19C>G rs1057516026
NM_015443.4(KANSL1):c.-90+24CCT[3] rs143625699
NM_015443.4(KANSL1):c.-90+55_-90+57del rs534448299

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