ClinVar Miner

List of variants studied for colorectal cancer, susceptibility to, 12 by GenomeConnect - Invitae Patient Insights Network

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
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_006231.4(POLE):c.861T>A (p.Asp287Glu)	rs139075637	0.00122
NM_006231.4(POLE):c.6730C>T (p.Leu2244Phe)	rs375741031	0.00010
NM_006231.4(POLE):c.1550C>T (p.Pro517Leu)	rs780556141	0.00001
NM_006231.4(POLE):c.4450A>G (p.Ile1484Val)	rs772734618
NM_006231.4(POLE):c.4924T>C (p.Cys1642Arg)	rs1593730686

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