ClinVar Miner

List of variants in gene FAM20A studied for amelogenesis imperfecta type 1G

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Total variants: 22
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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.111_145del (p.Glu39fs) rs2143965549
NM_017565.4(FAM20A):c.349_367del (p.Leu117fs) rs766926330
NM_017565.4(FAM20A):c.34_35del (p.Leu12fs) rs587776911
NM_017565.4(FAM20A):c.53T>A (p.Leu18Gln)
NM_017565.4(FAM20A):c.590-2A>G rs587776914
NM_017565.4(FAM20A):c.610del (p.Ala204fs)
NM_017565.4(FAM20A):c.612del (p.Leu205fs) rs587777531
NM_017565.4(FAM20A):c.626dup (p.Cys209fs)

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