ClinVar Miner

List of variants in gene KANSL1 reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_015443.4(KANSL1):c.1022G>A (p.Arg341Gln) rs371321182 0.00006
NM_015443.4(KANSL1):c.117C>T (p.Asn39=) rs747136051 0.00003
NM_015443.4(KANSL1):c.2225G>A (p.Arg742Gln) rs752047149 0.00001
NM_015443.4(KANSL1):c.1000A>T (p.Asn334Tyr) rs112150341
NM_015443.4(KANSL1):c.1586A>G (p.His529Arg)
NM_015443.4(KANSL1):c.2667-4dup rs2077067052
NM_015443.4(KANSL1):c.403T>G (p.Leu135Val) rs1064797226

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