ClinVar Miner

List of variants reported as benign for disorder of catecholamine synthesis

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_001082971.2(DDC):c.49A>G (p.Met17Val) rs6264 0.99398
NM_000787.4(DBH):c.486A>G (p.Glu162=) rs1108580 0.54709
NM_000787.4(DBH):c.1410A>G (p.Thr470=) rs77905 0.54407
NM_000787.4(DBH):c.922-28C>T rs1611125 0.52097
NM_001082971.2(DDC):c.715-22C>T rs11575375 0.36243
NM_001082971.2(DDC):c.436-16C>T rs6950777 0.27949
NM_000787.4(DBH):c.1563-5A>G rs1611131 0.25682
NM_001082971.2(DDC):c.1041+8G>A rs4490786 0.21464
NM_000787.4(DBH):c.*100C>T rs129882 0.19673
NM_000787.4(DBH):c.1335+13A>G rs7862391 0.08948
NM_000787.4(DBH):c.631G>A (p.Ala211Thr) rs5320 0.08535
NM_000787.4(DBH):c.1024+9C>T rs1611127 0.08112
NM_001082971.2(DDC):c.*341C>T rs11575553 0.07793
NM_000787.4(DBH):c.*390G>A rs13306304 0.06633
NM_000787.4(DBH):c.952G>T (p.Ala318Ser) rs4531 0.06315
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_000787.4(DBH):c.1645C>T (p.Arg549Cys) rs6271 0.04899
NM_000787.4(DBH):c.486+13C>T rs1611119 0.04537
NM_001082971.2(DDC):c.*297T>C rs11575551 0.03903
NM_000787.4(DBH):c.*278T>C rs129914 0.03550
NM_001082971.2(DDC):c.649A>G (p.Met217Val) rs6263 0.03032
NM_001082971.2(DDC):c.*314T>C rs11575552 0.02306
NM_000787.4(DBH):c.868G>A (p.Asp290Asn) rs5324 0.02156
NM_000787.4(DBH):c.735C>T (p.His245=) rs5322 0.02106
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu) rs6262 0.01372
NM_000787.4(DBH):c.1734C>T (p.Asn578=) rs45446891 0.01268
NM_000787.4(DBH):c.602A>G (p.Asn201Ser) rs45465204 0.01221
NM_000787.4(DBH):c.235C>T (p.Arg79Trp) rs77273740 0.01166
NM_000787.4(DBH):c.744+8C>T rs45549938 0.01161
NM_001082971.2(DDC):c.436-12T>C rs144962948 0.00650
NM_000787.4(DBH):c.533G>A (p.Arg178Gln) rs76819676 0.00638
NM_000787.4(DBH):c.1539G>A (p.Gln513=) rs78516399 0.00605
NM_000787.4(DBH):c.*837T>G rs148975018 0.00564
NM_000787.4(DBH):c.*58G>A rs45455601 0.00545
NM_000787.4(DBH):c.*840C>T rs143836755 0.00487
NM_000787.4(DBH):c.1722+4C>T rs45532436 0.00461
NM_000787.4(DBH):c.747C>T (p.Tyr249=) rs35465867 0.00428
NM_001082971.2(DDC):c.183G>T (p.Glu61Asp) rs11575292 0.00411
NM_000787.4(DBH):c.76G>A (p.Val26Met) rs76856960 0.00348
NM_001082971.2(DDC):c.96C>T (p.Asp32=) rs11575290 0.00319
NM_000787.4(DBH):c.1819C>T (p.Pro607Ser) rs148806316 0.00302
NM_000787.4(DBH):c.552C>T (p.Asn184=) rs149103223 0.00234
NM_001082971.2(DDC):c.717G>T (p.Met239Ile) rs11575377 0.00230
NM_000787.4(DBH):c.933C>T (p.Tyr311=) rs3025400 0.00217
NM_000787.4(DBH):c.1735C>T (p.Leu579=) rs61733931 0.00113
NM_000787.4(DBH):c.315C>T (p.Thr105=) rs143151641 0.00113
NM_000787.4(DBH):c.1772A>T (p.Glu591Val) rs75512464 0.00096
NM_000787.4(DBH):c.1788C>T (p.Cys596=) rs61729385 0.00051
NM_000787.4(DBH):c.1643A>G (p.Asn548Ser) rs151228388 0.00029
NM_000787.4(DBH):c.105C>T (p.Ala35=) rs140025171 0.00026
NM_000787.4(DBH):c.850G>A (p.Asp284Asn) rs13306301 0.00020
NM_001082971.2(DDC):c.550G>C (p.Val184Leu) rs139433641 0.00011
NM_000787.4(DBH):c.1572C>T (p.Asn524=) rs200509113 0.00008
NM_000787.4(DBH):c.1173G>A (p.Thr391=) rs201689325 0.00007
NM_001082971.2(DDC):c.135T>C (p.Ala45=) rs11575291 0.00006
NC_000009.11:g.136496870_136496871(11_15) rs72191426
NM_000787.4(DBH):c.1024+6C>G rs1611126
NM_000787.4(DBH):c.1206C>T (p.Ser402=) rs143743431
NM_000787.4(DBH):c.1221C>T (p.Phe407=) rs367783759
NM_000787.4(DBH):c.1374+16del rs760467553
NM_001082971.2(DDC):c.-29+4233AG[3] rs3837091
NM_001082971.2(DDC):c.1141-18dup
NM_001082971.2(DDC):c.49= (p.Met17=)
NM_001082971.2(DDC):c.570+18dup
NM_001082971.2(DDC):c.945-23T>G rs11575457

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