ClinVar Miner

Variants in gene KRIT1 with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP
NM_194454.3(KRIT1):c.146_147del (p.Arg49fs) rs1057518665
NM_194456.1(KRIT1):c.1524_1528del (p.Arg510fs) rs1057517754
NM_194456.1(KRIT1):c.1A>G (p.Met1Val) rs1554539120
NM_194456.1(KRIT1):c.715C>T (p.Gln239Ter) rs886043300

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