ClinVar Miner

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

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) rs201732356 0.00003
NM_000142.5(FGFR3):c.1612A>G (p.Ile538Val) rs80053154 0.00001
NM_005518.4(HMGCS2):c.1480C>T (p.Arg494Ter) rs776399237 0.00001
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) rs121913499 0.00001
NC_000017.11:g.68534268_68541798del
NM_000089.4(COL1A2):c.758G>T (p.Gly253Val) rs72656385
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000478.6(ALPL):c.1460C>T (p.Ala487Val) rs1229517379
NM_000478.6(ALPL):c.1479C>A (p.Asn493Lys) rs759758484
NM_000888.5(ITGB6):c.625G>T (p.Gly209Ter) rs561588576
NM_001024630.4(RUNX2):c.1081C>T (p.Gln361Ter) rs2150452063
NM_001024630.4(RUNX2):c.673C>T (p.Arg225Trp) rs104893992
NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln) rs104893991
NM_001024630.4(RUNX2):c.739del (p.Ser247fs) rs2150407600
NM_001024630.4(RUNX2):c.901C>T (p.Gln301Ter) rs758120505
NM_001130144.3(LTBP3):c.1721-2A>G rs2135143557
NM_001130144.3(LTBP3):c.2017G>T (p.Gly673Cys) rs2135141843
NM_001372076.1(PAX9):c.112C>T (p.Arg38Ter)
NM_001372076.1(PAX9):c.59C>T (p.Pro20Leu) rs1555316697
NM_001972.4(ELANE):c.289_300dup (p.Ala100_Val101insGlnValPheAla) rs2145145135
NM_002336.3(LRP6):c.845-1G>A rs2136998055
NM_002615.7(SERPINF1):c.278C>A (p.Ser93Ter) rs369973630
NM_002693.3(POLG):c.3102del (p.Lys1035fs) rs2055358006
NM_004429.5(EFNB1):c.253C>T (p.Gln85Ter) rs2080468871
NM_004655.4(AXIN2):c.2466G>A (p.Trp822Ter) rs2144391343
NM_006129.5(BMP1):c.584dup (p.Gln197fs) rs1828459412
NM_006371.5(CRTAP):c.470A>G (p.Lys157Arg) rs2125596197
NM_006371.5(CRTAP):c.62_77del (p.Leu21fs) rs1701308701
NM_014208.3(DSPP):c.2317del (p.Ser773fs)
NM_014208.3(DSPP):c.3555del (p.Asp1185fs)
NM_017565.4(FAM20A):c.1109+3_1109+7delinsTGGTC rs2143495812
NM_020184.4(CNNM4):c.1475G>A (p.Gly492Asp) rs2153349278
NM_020999.4(NEUROG3):c.284G>C (p.Arg95Pro) rs2133227148
NM_020999.4(NEUROG3):c.371C>G (p.Thr124Arg) rs2133227010

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