ClinVar Miner

List of variants reported as likely pathogenic for Deficiency of aromatic-L-amino-acid decarboxylase

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001082971.2(DDC):c.286G>A (p.Gly96Arg) rs1285477390 0.00004
NM_001082971.2(DDC):c.260C>T (p.Pro87Leu) rs746244631 0.00002
NM_001082971.2(DDC):c.1073G>A (p.Arg358His) rs771317809 0.00001
NM_001082971.2(DDC):c.1234C>T (p.Arg412Trp) rs542063660 0.00001
NM_001082971.2(DDC):c.1357C>T (p.Arg453Cys) rs142110773 0.00001
NM_001082971.2(DDC):c.201+1G>C rs1450673278 0.00001
NM_001082971.2(DDC):c.361T>C (p.Trp121Arg) rs371117662 0.00001
NM_001082971.2(DDC):c.367G>A (p.Gly123Arg) rs768596169 0.00001
NM_001082971.2(DDC):c.73G>A (p.Glu25Lys) rs756869400 0.00001
NM_001082971.2(DDC):c.876G>A (p.Glu292=) rs1237793828 0.00001
NM_001082971.2(DDC):c.923A>T (p.Asn308Ile) rs375716771 0.00001
NM_000790.4(DDC):c.316del rs1364054304
NM_001082971.2(DDC):c.1022-1G>A
NM_001082971.2(DDC):c.1041+1G>A
NM_001082971.2(DDC):c.1041+1G>C rs1209062363
NM_001082971.2(DDC):c.1042-2A>G rs1276093487
NM_001082971.2(DDC):c.116G>C (p.Arg39Pro) rs376647978
NM_001082971.2(DDC):c.1241dup (p.Ser416fs)
NM_001082971.2(DDC):c.1339C>T (p.Arg447Cys)
NM_001082971.2(DDC):c.1352G>T (p.Cys451Phe) rs1554411234
NM_001082971.2(DDC):c.140C>A (p.Pro47His)
NM_001082971.2(DDC):c.242C>T (p.Pro81Leu) rs935725316
NM_001082971.2(DDC):c.285C>A (p.Cys95Ter) rs748439275
NM_001082971.2(DDC):c.299G>C (p.Cys100Ser)
NM_001082971.2(DDC):c.367G>C (p.Gly123Arg)
NM_001082971.2(DDC):c.440G>T (p.Ser147Ile) rs1585237892
NM_001082971.2(DDC):c.478C>T (p.Arg160Trp) rs886062374
NM_001082971.2(DDC):c.571-2A>G rs2044098060
NM_001082971.2(DDC):c.571-3C>G rs779659084
NM_001082971.2(DDC):c.68G>T (p.Gly23Val)
NM_001082971.2(DDC):c.782-2A>T
NM_001082971.2(DDC):c.876+1G>T
NM_001082971.2(DDC):c.876+2T>G rs915727399
NM_001082971.2(DDC):c.945-1G>C rs2042728719

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