List of variants in gene KRIT1 reported as likely pathogenic by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NC_000007.13:g.(?_91851196)_(91852312_?)del
NC_000007.13:g.(?_91864697)_(91867093_?)dup
NM_194454.3(KRIT1):c.1721_1730+5del
NM_194454.3(KRIT1):c.1730+3A>C	rs1563244629
NM_194454.3(KRIT1):c.1818+1G>A	rs2131315805
NM_194454.3(KRIT1):c.1A>G (p.Met1Val)	rs1554539120
NM_194454.3(KRIT1):c.2134del (p.Thr712fs)	rs2131087593
NM_194454.3(KRIT1):c.2142+1G>C	rs1790081665
NM_194454.3(KRIT1):c.486-1G>T
NM_194454.3(KRIT1):c.729+5G>C	rs1468613071

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