ClinVar Miner

List of variants reported as likely pathogenic by Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.752C>T (p.Ser251Phe) rs1387151592
NM_000888.5(ITGB6):c.1661-3C>G rs1683256077
NM_001372076.1(PAX9):c.230G>A (p.Arg77Gln) rs1881346298
NM_005518.4(HMGCS2):c.1502G>C (p.Arg501Pro) rs372079931
NM_006129.5(BMP1):c.965G>A (p.Cys322Tyr) rs2131855526
NM_013328.4(PYCR2):c.257T>G (p.Val86Gly) rs1671863383
NM_013328.4(PYCR2):c.400G>A (p.Val134Met) rs1671854827
NM_017565.4(FAM20A):c.1231C>T (p.Arg411Trp) rs149970399
NM_017565.4(FAM20A):c.758A>G (p.Tyr253Cys) rs2143526006
NM_145861.4(EDARADD):c.413A>T (p.Asn138Ile) rs1030214435
NM_152365.3(KDF1):c.727A>C (p.Ile243Leu)

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