List of variants in gene KRIT1 reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_194454.3(KRIT1):c.1095A>G (p.Gly365=)	rs143710815	0.00238
NM_194454.3(KRIT1):c.77G>A (p.Arg26Gln)	rs34358665	0.00097
NM_194454.3(KRIT1):c.1166del (p.Gly389fs)	rs2131511467
NM_194454.3(KRIT1):c.1287del (p.Ser430fs)	rs2131454847
NM_194454.3(KRIT1):c.1412-1G>C	rs1554513070
NM_194454.3(KRIT1):c.196C>T (p.Gln66Ter)	rs771656368
NM_194454.3(KRIT1):c.2043del (p.Lys682fs)	rs1563212150
NM_194454.3(KRIT1):c.2119_2120del (p.Ser707fs)	rs1554490317

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