ClinVar Miner

List of variants in gene FAM20A studied for tooth hard tissue disease

Included ClinVar conditions (36):
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Gene type:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_017565.4(FAM20A):c.640+11T>C rs8071830 0.02884
NM_017565.4(FAM20A):c.18G>A (p.Arg6=) rs75228334 0.01179
NM_017565.4(FAM20A):c.444C>T (p.Ser148=) rs139743735 0.00235
NM_017565.4(FAM20A):c.467G>A (p.Arg156Gln) rs146809464 0.00033
NM_017565.4(FAM20A):c.513T>C (p.His171=) rs181817943 0.00030
NM_017565.4(FAM20A):c.440C>T (p.Thr147Ile) rs145784842 0.00023
NM_017565.4(FAM20A):c.43C>T (p.Leu15=) rs372862593 0.00020
NM_017565.4(FAM20A):c.527G>A (p.Arg176Gln) rs140917285 0.00019
NM_017565.4(FAM20A):c.5C>T (p.Pro2Leu) rs528874230 0.00014
NM_017565.4(FAM20A):c.404+18G>A rs773191671 0.00011
NM_017565.4(FAM20A):c.406C>T (p.Arg136Ter) rs144411158 0.00010
NM_017565.4(FAM20A):c.321G>C (p.Pro107=) rs568029338 0.00007
NM_017565.4(FAM20A):c.342C>T (p.Asp114=) rs778101746 0.00006
NM_017565.4(FAM20A):c.13C>A (p.Arg5Ser) rs766476867 0.00004
NM_017565.4(FAM20A):c.50C>T (p.Ala17Val) rs1335379646 0.00003
NM_017565.4(FAM20A):c.103C>A (p.Leu35Met)
NM_017565.4(FAM20A):c.104T>G (p.Leu35Arg)
NM_017565.4(FAM20A):c.109C>G (p.Pro37Ala)
NM_017565.4(FAM20A):c.111_145del (p.Glu39fs) rs2143965549
NM_017565.4(FAM20A):c.133C>T (p.Pro45Ser)
NM_017565.4(FAM20A):c.145C>T (p.Arg49Cys)
NM_017565.4(FAM20A):c.14G>A (p.Arg5His)
NM_017565.4(FAM20A):c.154T>G (p.Ser52Ala)
NM_017565.4(FAM20A):c.188dup (p.Asp63fs)
NM_017565.4(FAM20A):c.195C>T (p.Gly65=)
NM_017565.4(FAM20A):c.197C>G (p.Thr66Arg)
NM_017565.4(FAM20A):c.19G>A (p.Asp7Asn)
NM_017565.4(FAM20A):c.19G>C (p.Asp7His)
NM_017565.4(FAM20A):c.217C>A (p.Arg73=)
NM_017565.4(FAM20A):c.225G>C (p.Glu75Asp)
NM_017565.4(FAM20A):c.242C>G (p.Ala81Gly)
NM_017565.4(FAM20A):c.255C>G (p.His85Gln)
NM_017565.4(FAM20A):c.278_281dup (p.Leu95fs)
NM_017565.4(FAM20A):c.316G>A (p.Glu106Lys)
NM_017565.4(FAM20A):c.326T>C (p.Leu109Pro)
NM_017565.4(FAM20A):c.332_352dup (p.Leu117_Ala118insGlyAlaGluAspSerLeuLeu)
NM_017565.4(FAM20A):c.339G>C (p.Glu113Asp)
NM_017565.4(FAM20A):c.345G>T (p.Ser115=)
NM_017565.4(FAM20A):c.349_367del (p.Leu117fs) rs766926330
NM_017565.4(FAM20A):c.34CTG[5] (p.Leu15_Gly16insLeu)
NM_017565.4(FAM20A):c.34_35del (p.Leu12fs) rs587776911
NM_017565.4(FAM20A):c.384_385delinsCCCGCTGGAAC (p.Arg128_Lys129delinsSerProLeuGluGln)
NM_017565.4(FAM20A):c.392C>T (p.Ala131Val)
NM_017565.4(FAM20A):c.395G>C (p.Arg132Pro)
NM_017565.4(FAM20A):c.411C>A (p.His137Gln)
NM_017565.4(FAM20A):c.451C>T (p.Pro151Ser)
NM_017565.4(FAM20A):c.455C>A (p.Pro152Gln)
NM_017565.4(FAM20A):c.455C>G (p.Pro152Arg)
NM_017565.4(FAM20A):c.466C>T (p.Arg156Ter)
NM_017565.4(FAM20A):c.496C>A (p.Leu166Met)
NM_017565.4(FAM20A):c.526C>T (p.Arg176Trp)
NM_017565.4(FAM20A):c.53T>A (p.Leu18Gln)
NM_017565.4(FAM20A):c.573T>A (p.Phe191Leu)
NM_017565.4(FAM20A):c.590-2A>G rs587776914
NM_017565.4(FAM20A):c.590-3_590-2delinsAG
NM_017565.4(FAM20A):c.590-5T>A
NM_017565.4(FAM20A):c.610del (p.Ala204fs)
NM_017565.4(FAM20A):c.612del (p.Leu205fs) rs587777531
NM_017565.4(FAM20A):c.625T>A (p.Cys209Ser)
NM_017565.4(FAM20A):c.626dup (p.Cys209fs)
NM_017565.4(FAM20A):c.654T>G (p.Ser218Arg)
NM_017565.4(FAM20A):c.665T>C (p.Leu222Pro)
NM_017565.4(FAM20A):c.686C>T (p.Ser229Leu)
NM_017565.4(FAM20A):c.694G>A (p.Gly232Arg)
NM_017565.4(FAM20A):c.95A>G (p.Gln32Arg)

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