ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 20
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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) rs1480307304
NM_015443.4(KANSL1):c.1347G>A (p.Trp449Ter) rs2146947345
NM_015443.4(KANSL1):c.1412_1413del (p.Lys471fs) rs2146946828
NM_015443.4(KANSL1):c.1463dup (p.Glu489fs) rs1555753569
NM_015443.4(KANSL1):c.1533+1G>A
NM_015443.4(KANSL1):c.1768_1769delinsAG (p.Ala590Arg) rs2078387202
NM_015443.4(KANSL1):c.1958dup (p.Leu654fs)
NM_015443.4(KANSL1):c.2345del (p.Asn782fs)
NM_015443.4(KANSL1):c.2542-1G>A rs111514883
NM_015443.4(KANSL1):c.2660C>A (p.Thr887Lys)
NM_015443.4(KANSL1):c.2695A>T (p.Lys899Ter)
NM_015443.4(KANSL1):c.2902C>T (p.Gln968Ter) rs2077030838
NM_015443.4(KANSL1):c.295C>T (p.Gln99Ter) rs2147749507
NM_015443.4(KANSL1):c.3031C>T (p.Arg1011Ter) rs779686052
NM_015443.4(KANSL1):c.3125del (p.Leu1042fs) rs797045049
NM_015443.4(KANSL1):c.611del (p.Gly204fs)
NM_015443.4(KANSL1):c.876del (p.Asp293fs) rs1597872089
NM_015443.4(KANSL1):c.985_995del (p.Leu329fs) rs1057518659
NM_015443.4(KANSL1):c.993dup (p.Leu332fs)

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