ClinVar Miner

List of variants studied for dental enamel hypoplasia by Wang Lab, School of Dentistry, National Taiwan University

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_004771.4(MMP20):c.[1046C>T;911C>G]
NM_017565.4(FAM20A):c.[129del;734_735del]
NM_031889.3(ENAM):c.588+1del rs752102959
NM_198488.5(FAM83H):c.1309_1311delinsTAA (p.His437Ter) rs2129674608
NM_198488.5(FAM83H):c.1330C>T (p.Gln444Ter) rs1818377152
NM_198488.5(FAM83H):c.1408C>T (p.Gln470Ter) rs137854441
NM_198488.5(FAM83H):c.1828G>T (p.Glu610Ter) rs1554622736
NM_198488.5(FAM83H):c.1915A>T (p.Lys639Ter) rs2129668758

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