ClinVar Miner

List of variants studied for Koolen de Vries syndrome by GeneReviews

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
17q21.31 Microdeletion
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.2783_2784AG[1] (p.Arg929fs) rs281865471
NM_001193466.2(KANSL1):c.916C>T (p.Gln306Ter) rs281865468
NM_001193466.2(KANSL1):c.985_986del (p.Leu329fs) rs281865473

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