ClinVar Miner

List of variants studied for dental enamel hypoplasia by Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NC_000017.11:g.68534268_68541798del
NM_000888.5(ITGB6):c.1661-3C>G rs1683256077
NM_000888.5(ITGB6):c.625G>T (p.Gly209Ter) rs561588576
NM_017565.4(FAM20A):c.1109+3_1109+7delinsTGGTC rs2143495812
NM_017565.4(FAM20A):c.1231C>T (p.Arg411Trp) rs149970399
NM_017565.4(FAM20A):c.758A>G (p.Tyr253Cys) rs2143526006

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