ClinVar Miner

List of variants studied for congenital heart disease by Agnes Ginges Centre for Molecular Cardiology, Centenary Institute

Included ClinVar conditions (289):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter) rs147622517 0.00154
NM_001037.5(SCN1B):c.412G>A (p.Val138Ile) rs72558029 0.00058
NM_172201.2(KCNE2):c.29C>T (p.Thr10Met) rs199473648 0.00025
NM_144573.4(NEXN):c.1609_1610insA (p.Leu537fs) rs779350415 0.00001
NM_000218.3(KCNQ1):c.1022C>T (p.Ala341Val) rs12720459
NM_000218.3(KCNQ1):c.1032+1_1129-1del
NM_000218.3(KCNQ1):c.1322C>T (p.Pro441Leu) rs1848630761
NM_000218.3(KCNQ1):c.1616G>A (p.Arg539Gln) rs199472794
NM_000218.3(KCNQ1):c.386T>G (p.Val129Gly) rs1846024488
NM_000238.4(KCNH2):c.1280A>G (p.Tyr427Cys) rs199472897
NM_000238.4(KCNH2):c.1909G>T (p.Glu637Ter) rs199472968
NM_000238.4(KCNH2):c.2044del (p.Glu682fs) rs1584852174
NM_000238.4(KCNH2):c.2345T>C (p.Ile782Thr) rs1801085857
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1]) rs551056698

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