ClinVar Miner

List of variants reported as uncertain significance for colorectal cancer, susceptibility to, 12 by Zotz-Klimas Genetics Lab, MVZ Zotz Klimas

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_006231.4(POLE):c.3971G>A (p.Arg1324His)	rs143981093	0.00032
NM_006231.4(POLE):c.3072G>T (p.Met1024Ile)	rs1060500791

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