List of variants in gene KANSL1 reported as likely pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter)	rs149830411	0.00006
GRCh37/hg19 17q21.31(chr17:44135737-44212416)x1
NM_015443.4(KANSL1):c.1185dup (p.Gln396fs)
NM_015443.4(KANSL1):c.1186C>T (p.Gln396Ter)	rs796052603
NM_015443.4(KANSL1):c.1268_1269del (p.Pro423fs)	rs1555574888
NM_015443.4(KANSL1):c.1450del (p.Glu484fs)	rs34878385
NM_015443.4(KANSL1):c.1651dup (p.Thr551fs)	rs1057518010
NM_015443.4(KANSL1):c.1774C>T (p.Arg592Trp)	rs774841964
NM_015443.4(KANSL1):c.1848G>T (p.Lys616Asn)	rs1057520050
NM_015443.4(KANSL1):c.2542-2A>G	rs2077089395
NM_015443.4(KANSL1):c.2667-1G>A	rs2077066926
NM_015443.4(KANSL1):c.2827C>T (p.Arg943Trp)
NM_015443.4(KANSL1):c.2902del (p.Gln968fs)	rs1374665357
NM_015443.4(KANSL1):c.930del (p.Lys311fs)	rs1597871799

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