ClinVar Miner

List of variants reported as pathogenic for Koolen de Vries syndrome

Included ClinVar conditions (1):
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Total variants: 16
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HGVS dbSNP
17q21.31 Microdeletion
NC_000017.11:g.(?_46031456)_(46082562_?)del
NM_001193465.1:c.449delC
NM_001193466.1(KANSL1):c.1046delA (p.Lys349Argfs)
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.2132dup (p.Met711Ilefs) rs1555734136
NM_001193466.1(KANSL1):c.2785_2786delAG (p.Arg929Glyfs) rs281865471
NM_001193466.1(KANSL1):c.572del (p.Gly191Valfs) rs1555575816
NM_001193466.1(KANSL1):c.808_809delCT (p.Leu270Valfs) rs551541795
NM_001193466.1(KANSL1):c.868C>T (p.Arg290Ter) rs149830411
NM_001193466.1(KANSL1):c.916C>T (p.Gln306Ter) rs281865468
NM_001193466.1(KANSL1):c.985_986delTT (p.Leu329Glufs) rs281865473
NM_015443.3(KANSL1):c.878delA (p.Asp293Alafs) rs1555575405
NM_015443.3:c.2938_2939del

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