List of variants in gene KRIT1 reported by Athena Diagnostics Inc

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_194454.3(KRIT1):c.1980A>G (p.Val660=)	rs11542682	0.10861
NM_194454.3(KRIT1):c.444T>C (p.His148=)	rs746035680	0.00014
NM_194454.3(KRIT1):c.1868G>A (p.Arg623His)	rs143644029	0.00012
NM_194454.3(KRIT1):c.1084del (p.Ala362fs)	rs1554518541
NM_194454.3(KRIT1):c.1255-2A>G	rs1795437460
NM_194454.3(KRIT1):c.1267C>T (p.Arg423Ter)	rs886039402
NM_194454.3(KRIT1):c.1363C>T (p.Gln455Ter)	rs267607203
NM_194454.3(KRIT1):c.1849G>T (p.Glu617Ter)	rs1554503116
NM_194454.3(KRIT1):c.1959_1962dup (p.Val655Ter)
NM_194454.3(KRIT1):c.1967del (p.Ile656fs)
NM_194454.3(KRIT1):c.418C>T (p.Arg140Ter)	rs866982998
NM_194454.3(KRIT1):c.486-1G>A	rs1554529341
NM_194454.3(KRIT1):c.702T>C (p.Phe234=)	rs1374778171
NM_194454.3(KRIT1):c.715C>T (p.Gln239Ter)	rs886043300
Single allele

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