ClinVar Miner

List of variants reported as pathogenic for Koolen de Vries syndrome

Included ClinVar conditions (1):
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Total variants: 21
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HGVS dbSNP
17q21.31 Microdeletion
GRCh37/hg19 17q21.31(chr17:43706886-44210822)x1
NC_000017.11:g.(?_46031456)_(46082562_?)del
NM_001193466.2(KANSL1):c.1042C>T (p.Arg348Ter) rs1427624649
NM_001193466.2(KANSL1):c.1046del (p.Lys349fs) rs1567761585
NM_001193466.2(KANSL1):c.1652+1G>A rs281865470
NM_001193466.2(KANSL1):c.1816C>T (p.Arg606Ter) rs281865469
NM_001193466.2(KANSL1):c.1867_1870del (p.Ile623fs) rs281865472
NM_001193466.2(KANSL1):c.2132dup (p.Met711fs) rs1555734136
NM_001193466.2(KANSL1):c.2783_2784AG[1] (p.Arg929fs) rs281865471
NM_001193466.2(KANSL1):c.2938_2939del (p.Leu980fs) rs1568366050
NM_001193466.2(KANSL1):c.449del (p.Pro150fs) rs1567764119
NM_001193466.2(KANSL1):c.540del (p.Lys180fs) rs1597874008
NM_001193466.2(KANSL1):c.572del (p.Gly191fs) rs1555575816
NM_001193466.2(KANSL1):c.808_809del (p.Leu270fs) rs551541795
NM_001193466.2(KANSL1):c.868C>T (p.Arg290Ter) rs149830411
NM_001193466.2(KANSL1):c.878del (p.Asp293fs) rs1555575405
NM_001193466.2(KANSL1):c.916C>T (p.Gln306Ter) rs281865468
NM_001193466.2(KANSL1):c.985_986del (p.Leu329fs) rs281865473
NM_015443.4(KANSL1):c.2837+2T>C
NM_015443.4(KANSL1):c.3031C>T (p.Arg1011Ter)

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