List of variants in gene KPTN reported as pathogenic for multiple congenital anomalies/dysmorphic syndrome-intellectual disability

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_007059.4(KPTN):c.776C>A (p.Ser259Ter)	rs374298314	0.00011
NM_007059.4(KPTN):c.597_598dup (p.Ser200fs)	rs766372684	0.00010
NM_007059.4(KPTN):c.394+1G>A	rs373139784	0.00006
NM_007059.4(KPTN):c.665dup (p.Ser223fs)	rs1295123083	0.00001
NM_007059.3(KPTN):c.397_398delAG
NM_007059.4(KPTN):c.1183-1G>A	rs2122670288
NM_007059.4(KPTN):c.184dup (p.Ile62fs)	rs1243527780
NM_007059.4(KPTN):c.391del (p.Ala131fs)
NM_007059.4(KPTN):c.599+1G>A
NM_007059.4(KPTN):c.714_731dup (p.Gln246_Asp247insMetTrpSerValLeuGln)	rs587777148
NM_007059.4(KPTN):c.736C>T (p.Gln246Ter)
NM_007059.4(KPTN):c.785_786del (p.Lys262fs)	rs2122687472

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