ClinVar Miner

List of variants reported as likely pathogenic for colorectal cancer, susceptibility to, 12 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (3):

Colorectal cancer, susceptibility to, 12
Colorectal cancer, susceptibility to, 12; Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Colorectal cancer, susceptibility to, 12; Facial dysmorphism-immunodeficiency-livedo-short stature syndrome; Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NC_000012.11:g.(?_133210752)_(133210984_?)dup
NM_006231.4(POLE):c.2468+1G>T
NM_006231.4(POLE):c.579-1G>C

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