ClinVar Miner

List of variants studied for colorectal cancer, susceptibility to, 12 by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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.5002G>A (p.Gly1668Ser)	rs371348453	0.00003
NM_006231.4(POLE):c.2963C>T (p.Ser988Leu)	rs138391248	0.00001
NM_006231.4(POLE):c.4724A>G (p.Tyr1575Cys)	rs1008362127	0.00001
NM_006231.4(POLE):c.6166G>A (p.Ala2056Thr)	rs58916399	0.00001
NM_006231.4(POLE):c.727T>G (p.Trp243Gly)	rs2136018853

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