ClinVar Miner

List of variants studied for Koolen-de Vries syndrome by Mendelics

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_015443.4(KANSL1):c.3029C>T (p.Pro1010Leu) rs7220988 0.34127
NM_015443.4(KANSL1):c.2718T>G (p.Asn906Lys) rs139615350 0.00125
NM_015443.4(KANSL1):c.1325G>C (p.Arg442Pro) rs1480307304
NM_015443.4(KANSL1):c.2105del (p.Lys702fs) rs2146370110
NM_015443.4(KANSL1):c.2710GAG[1] (p.Glu905del) rs551968687
NM_015443.4(KANSL1):c.985_986del (p.Leu329fs) rs281865473

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