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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_015443.4(KANSL1):c.727C>A (p.Gln243Lys)	rs142096969	0.00169
NM_015443.4(KANSL1):c.2481C>T (p.Ser827=)	rs143653891	0.00044
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.850A>G (p.Ile284Val)	rs766991003	0.00002
NM_015443.4(KANSL1):c.2225G>A (p.Arg742Gln)	rs752047149	0.00001
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs)	rs551541795	0.00001
NM_015443.4(KANSL1):c.1000A>T (p.Asn334Tyr)	rs112150341
NM_015443.4(KANSL1):c.1288_1289del (p.Leu430fs)	rs2046246646
NM_015443.4(KANSL1):c.1450del (p.Glu484fs)	rs34878385
NM_015443.4(KANSL1):c.1586A>G (p.His529Arg)
NM_015443.4(KANSL1):c.2233A>G (p.Arg745Gly)	rs796052596
NM_015443.4(KANSL1):c.2667-4dup	rs2077067052
NM_015443.4(KANSL1):c.403T>G (p.Leu135Val)	rs1064797226
NM_015443.4(KANSL1):c.778G>A (p.Gly260Ser)	rs1159067199

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