ClinVar Miner

List of variants reported as benign for aromatic L-amino acid decarboxylase deficiency by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001082971.2(DDC):c.49A>G (p.Met17Val) rs6264 0.99398
NM_001082971.2(DDC):c.436-16C>T rs6950777 0.27949
NM_001082971.2(DDC):c.1041+8G>A rs4490786 0.21464
NM_001082971.2(DDC):c.234C>T (p.Ala78=) rs11575302 0.05323
NM_001082971.2(DDC):c.1385G>A (p.Arg462Gln) rs11575542 0.05076
NM_001082971.2(DDC):c.649A>G (p.Met217Val) rs6263 0.03032
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu) rs6262 0.01372
NM_001082971.2(DDC):c.436-12T>C rs144962948 0.00650
NM_001082971.2(DDC):c.183G>T (p.Glu61Asp) rs11575292 0.00411
NM_001082971.2(DDC):c.96C>T (p.Asp32=) rs11575290 0.00319
NM_001082971.2(DDC):c.717G>T (p.Met239Ile) rs11575377 0.00230
NM_001082971.2(DDC):c.550G>C (p.Val184Leu) rs139433641 0.00011
NM_001082971.2(DDC):c.135T>C (p.Ala45=) rs11575291 0.00006
NM_001082971.2(DDC):c.1141-18dup
NM_001082971.2(DDC):c.49= (p.Met17=)
NM_001082971.2(DDC):c.570+18dup

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