ClinVar Miner

List of variants studied for mandibular hypoplasia-deafness-progeroid syndrome by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

Included ClinVar conditions (5):

Colorectal cancer, susceptibility to, 10; Mandibular hypoplasia-deafness-progeroid syndrome
Colorectal cancer, susceptibility to, 10; Mandibular hypoplasia-deafness-progeroid syndrome; Adenomatous polyp of colon
Colorectal cancer, susceptibility to, 10; Mandibular hypoplasia-deafness-progeroid syndrome; Immunodeficiency 120
Familial colorectal cancer; Mandibular hypoplasia-deafness-progeroid syndrome
Mandibular hypoplasia-deafness-progeroid syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_002691.4(POLD1):c.3199G>A (p.Glu1067Lys)	rs1315638826

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