ClinVar Miner

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

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Total variants: 12
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HGVS dbSNP
NM_001193466.2(KANSL1):c.1000A>T (p.Asn334Tyr) rs112150341
NM_001193466.2(KANSL1):c.1022G>A (p.Arg341Gln) rs371321182
NM_001193466.2(KANSL1):c.2225G>A (p.Arg742Gln) rs752047149
NM_001193466.2(KANSL1):c.2233A>G (p.Arg745Gly) rs796052596
NM_001193466.2(KANSL1):c.403T>G (p.Leu135Val) rs1064797226
NM_001193466.2(KANSL1):c.808_809del (p.Leu270fs) rs551541795
NM_015443.4(KANSL1):c.117C>T (p.Asn39=) rs747136051
NM_015443.4(KANSL1):c.1288_1289del (p.Leu430fs)
NM_015443.4(KANSL1):c.1450del (p.Glu484fs) rs34878385
NM_015443.4(KANSL1):c.2667-4dup
NM_015443.4(KANSL1):c.778G>A (p.Gly260Ser)
NM_015443.4(KANSL1):c.850A>G (p.Ile284Val)

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