ClinVar Miner

List of variants in gene KANSL1 reported by Baylor Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_015443.4(KANSL1):c.1783C>G (p.Pro595Ala) rs947698008 0.00001
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs) rs551541795 0.00001
NM_015443.4(KANSL1):c.1533+3A>G rs1944843364
NM_015443.4(KANSL1):c.3125del (p.Leu1042fs) rs797045049
NM_015443.4(KANSL1):c.531_540del (p.Gly179fs) rs1567763809
NM_015443.4(KANSL1):c.540del (p.Lys180fs) rs1597874008
NM_015443.4(KANSL1):c.985_986del (p.Leu329fs) rs281865473
NM_015443.4(KANSL1):c.985_995del (p.Leu329fs) rs1057518659

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