ClinVar Miner

List of variants studied for disorder of catecholamine synthesis by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000787.4(DBH):c.339+2T>C rs74853476 0.00106
NM_001082971.2(DDC):c.714+4A>T rs200362242 0.00005
NM_001082971.2(DDC):c.272C>T (p.Ala91Val) rs137853211 0.00004
NM_001082971.2(DDC):c.823G>A (p.Ala275Thr) rs137853212 0.00003
NM_001082971.2(DDC):c.304G>A (p.Gly102Ser) rs137853207 0.00001
NM_000787.3(DBH):c.[301G>A;1033G>A]
NM_000787.4(DBH):c.342C>A (p.Asp114Glu) rs77576840
NM_001082971.2(DDC):c.1228T>G (p.Cys410Gly) rs2042419194
NM_001082971.2(DDC):c.439A>C (p.Ser147Arg) rs137853210
NM_001082971.2(DDC):c.749C>T (p.Ser250Phe) rs137853208
NM_001082971.2(DDC):c.925T>C (p.Phe309Leu) rs137853209

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