ClinVar Miner

List of variants reported as pathogenic for congenital heart disease by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (289):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 0.00013
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) rs104894503 0.00003
NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs) rs727504412
NM_000214.3(JAG1):c.228del (p.Val77fs) rs2067506937
NM_000218.3(KCNQ1):c.1262_1265del (p.Lys421fs) rs397508083
NM_000218.3(KCNQ1):c.364dup (p.Cys122fs) rs397508109
NM_000891.3(KCNJ2):c.578T>C (p.Leu193Pro) rs1555603955
NM_000969.5(RPL5):c.74-1G>C rs1553284997
NM_004006.3(DMD):c.93+1G>C rs886042604
NM_004387.4(NKX2-5):c.711C>A (p.Tyr237Ter) rs1554093433
NM_014140.4(SMARCAL1):c.723C>A (p.Cys241Ter) rs748106387
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_133433.4(NIPBL):c.7459del (p.Glu2487fs) rs1554034812

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