ClinVar Miner

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

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs) rs551541795 0.00001
NM_015443.4(KANSL1):c.1325G>C (p.Arg442Pro)
NM_015443.4(KANSL1):c.1347G>A (p.Trp449Ter)
NM_015443.4(KANSL1):c.1412_1413del (p.Lys471fs)
NM_015443.4(KANSL1):c.1463dup (p.Glu489fs) rs1555753569
NM_015443.4(KANSL1):c.1768_1769delinsAG (p.Ala590Arg) rs2078387202
NM_015443.4(KANSL1):c.2902C>T (p.Gln968Ter) rs2077030838
NM_015443.4(KANSL1):c.295C>T (p.Gln99Ter)
NM_015443.4(KANSL1):c.3031C>T (p.Arg1011Ter) rs779686052
NM_015443.4(KANSL1):c.3125del (p.Leu1042fs) rs797045049
NM_015443.4(KANSL1):c.876del (p.Asp293fs) rs1597872089
NM_015443.4(KANSL1):c.985_995del (p.Leu329fs) rs1057518659

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