ClinVar Miner

List of variants studied for Amelogenesis imperfecta type 1G

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_017565.4(FAM20A):c.1589T>C (p.Leu530Ser) rs2907373 0.72701
NM_017565.4(FAM20A):c.996C>A (p.Asn332Lys) rs2302234 0.30437
NM_017565.4(FAM20A):c.640+11T>C rs8071830 0.02884
NM_017565.4(FAM20A):c.928+16G>A rs16973042 0.01441
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.1314C>T (p.His438=) rs78050433 0.00053
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.1175G>A (p.Arg392Gln) rs376802484 0.00016
NM_017565.4(FAM20A):c.1472C>T (p.Thr491Ile) rs182816928 0.00015
NM_017565.4(FAM20A):c.5C>T (p.Pro2Leu) rs528874230 0.00014
NM_017565.4(FAM20A):c.792C>T (p.Ile264=) rs139591838 0.00014
NM_017565.4(FAM20A):c.404+18G>A rs773191671 0.00011
NM_017565.4(FAM20A):c.984T>C (p.Ala328=) rs374633547 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.813-2A>G rs587776912 0.00003
NM_017565.4(FAM20A):c.826C>T (p.Arg276Ter) rs387907215 0.00001
NM_001276290.1(PRKAR1A):c.973+4267_974-9286del
NM_017565.4(FAM20A):c.1094T>C (p.Leu365Pro) rs956049429
NM_017565.4(FAM20A):c.1109+3_1109+7delinsTGGTC rs2143495812
NM_017565.4(FAM20A):c.111_145del (p.Glu39fs) rs2143965549
NM_017565.4(FAM20A):c.1169G>A (p.Ser390Asn) rs771912912
NM_017565.4(FAM20A):c.1175_1179del (p.Arg392fs) rs587776913
NM_017565.4(FAM20A):c.1210T>C (p.Phe404Leu)
NM_017565.4(FAM20A):c.1219+3_1219+6del rs2086254952
NM_017565.4(FAM20A):c.1231C>T (p.Arg411Trp) rs149970399
NM_017565.4(FAM20A):c.1294G>A (p.Ala432Thr) rs200599944
NM_017565.4(FAM20A):c.1301+5G>A
NM_017565.4(FAM20A):c.1361+1G>A
NM_017565.4(FAM20A):c.1432C>T (p.Arg478Ter) rs139620139
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)
NM_017565.4(FAM20A):c.720-2A>G rs587777530
NM_017565.4(FAM20A):c.757T>C (p.Tyr253His) rs2143526028
NM_017565.4(FAM20A):c.758A>G (p.Tyr253Cys) rs2143526006
NM_017565.4(FAM20A):c.885del (p.Thr296fs) rs1568724130
NM_017565.4(FAM20A):c.915_918del (p.Phe305fs) rs760163489
NM_017565.4(FAM20A):c.928+2T>C
NM_017565.4(FAM20A):c.976_978del (p.Glu326del)
NM_017565.4(FAM20A):c.[129del;734_735del]

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