ClinVar Miner

List of variants reported as likely pathogenic for congenital anomaly of cardiovascular system by Baylor Genetics

Included ClinVar conditions (334):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter) rs201850378 0.00007
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302 0.00004
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158 0.00003
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.386+16231G>A rs1490391959 0.00001
NM_138295.5(PKD1L1):c.5072G>C (p.Cys1691Ser) rs886037834 0.00001
NM_000218.3(KCNQ1):c.1022C>G (p.Ala341Gly) rs12720459
NM_000218.3(KCNQ1):c.1051T>C (p.Phe351Leu) rs779383393
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro) rs187705120
NM_000257.4(MYH7):c.1141G>A (p.Ala381Thr) rs727504753
NM_000257.4(MYH7):c.4309G>C (p.Ala1437Pro)
NM_000257.4(MYH7):c.732+1del rs397516266
NM_000891.3(KCNJ2):c.896A>G (p.Glu299Gly) rs786205817
NM_001018005.2(TPM1):c.479G>A (p.Arg160His) rs199476311
NM_001106.4(ACVR2B):c.1147C>T (p.Arg383Cys) rs1559655653
NM_001267550.2(TTN):c.45316_45320dup (p.Arg15108fs) rs794729390
NM_001276345.2(TNNT2):c.433del (p.Ala145fs)
NM_001308093.3(GATA4):c.851G>A (p.Arg284His) rs180765750
NM_001379200.1(TBX1):c.437+1G>C
NM_001492.6(GDF1):c.776_801del (p.Leu259fs) rs1555702261
NM_005159.5(ACTC1):c.312del (p.Thr105fs) rs1891747424
NM_005159.5(ACTC1):c.382A>G (p.Thr128Ala) rs1595761333
NM_005159.5(ACTC1):c.635G>A (p.Arg212His) rs397517067
NM_018055.5(NODAL):c.2T>C (p.Met1Thr)
NM_020774.4(MIB1):c.2878C>T (p.Gln960Ter) rs1430105900
NM_022114.4(PRDM16):c.3142del (p.Leu1048fs)
NM_145020.5(CFAP53):c.877C>T (p.Gln293Ter) rs897584290
NM_145054.5(CFAP52):c.1304del (p.Gly435fs) rs1360832162

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