List of variants reported as likely pathogenic for pterin-4 alpha-carbinolamine dehydratase 1 deficiency

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000281.4(PCBD1):c.292C>T (p.Gln98Ter)	rs121913015	0.00014
NM_000281.4(PCBD1):c.259G>T (p.Glu87Ter)	rs104894172	0.00005
NM_000281.4(PCBD1):c.244T>C (p.Cys82Arg)	rs104894177	0.00001
NM_000281.4(PCBD1):c.289G>A (p.Glu97Lys)	rs397518416	0.00001
NM_000281.4(PCBD1):c.117_121del (p.His39fs)
NM_000281.4(PCBD1):c.3+1G>T

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