ClinVar Miner

List of variants reported as likely benign 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
NM_006231.4(POLE):c.1119G>A (p.Glu373=)	rs1555229135
NM_006231.4(POLE):c.2562-7T>C	rs2135957248
NM_006231.4(POLE):c.286-4del	rs1555230256

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