ClinVar Miner

Variants in gene DBH with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_000787.4(DBH):c.1444G>A (p.Gly482Arg) rs41316996 0.00180
NM_000787.4(DBH):c.1215C>T (p.His405=) rs144219953 0.00068
NM_000787.4(DBH):c.165G>A (p.Pro55=) rs139591190 0.00057
NM_000787.4(DBH):c.807C>T (p.Cys269=) rs141816448 0.00050
NM_000787.4(DBH):c.849C>T (p.Cys283=) rs78200745 0.00040
NM_000787.4(DBH):c.1025-6T>A rs199926239 0.00034
NM_000787.4(DBH):c.291C>T (p.Asn97=) rs75734048 0.00022
NM_000787.4(DBH):c.1840G>A (p.Gly614Arg) rs76316834 0.00017
NM_000787.4(DBH):c.354C>T (p.Asp118=) rs199898782 0.00017
NM_000787.4(DBH):c.1094T>C (p.Met365Thr) rs200103371 0.00010
NM_000787.4(DBH):c.1599G>A (p.Ala533=) rs377563744 0.00008
NM_000787.4(DBH):c.624C>T (p.Pro208=) rs75942058 0.00008
NM_000787.4(DBH):c.1722+13G>T rs200197329 0.00005
NM_000787.4(DBH):c.921+8C>T rs886063659 0.00001

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