ClinVar Miner

List of variants studied for congenital heart disease by GenomeConnect, ClinGen

Included ClinVar conditions (289):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000238.4(KCNH2):c.2863C>G (p.Leu955Val) rs199473012 0.00004
NM_000238.4(KCNH2):c.3457C>T (p.His1153Tyr) rs199473035 0.00002
NM_001148.6(ANK2):c.10080G>C (p.Gln3360His) rs1214575789 0.00001
NM_001148.6(ANK2):c.109C>T (p.Arg37Cys) rs369877280 0.00001
NM_000238.4(KCNH2):c.1926C>G (p.Ile642Met) rs1801154313
NM_000238.4(KCNH2):c.2464G>A (p.Val822Met) rs121912506
NM_000238.4(KCNH2):c.3002G>A (p.Trp1001Ter) rs794728401
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) rs193922384
NM_000257.4(MYH7):c.4156C>T (p.Leu1386Phe) rs727504703
NM_000335.5(SCN5A):c.1076C>A (p.Ala359Asp) rs1553704925
NM_000891.3(KCNJ2):c.431G>A (p.Gly144Asp) rs199473377
NM_001148.6(ANK2):c.1069C>T (p.Pro357Ser) rs2049005904
NM_001148.6(ANK2):c.4351A>G (p.Thr1451Ala) rs1554536556
NM_001148.6(ANK2):c.7942G>C (p.Gly2648Arg) rs199828363
NM_015335.4(MED13L):c.5996_5998delinsGTA (p.Phe1999_Pro2000delinsCysThr) rs1555241160

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