ClinVar Miner

List of variants reported as likely benign for congenital heart disease by Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego

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.565G>A (p.Val189Ile) rs11570052 0.00187
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438 0.00153
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr) rs117502839 0.00143
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys) rs61729664 0.00128
NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr) rs72648947 0.00046
NM_005751.5(AKAP9):c.971T>C (p.Ile324Thr) rs367857951 0.00024
NM_000152.5(GAA):c.362A>G (p.Gln121Arg) rs150284874 0.00012
NM_000256.3(MYBPC3):c.2614G>A (p.Glu872Lys) rs190765116 0.00012
NM_001103.4(ACTN2):c.556C>T (p.Leu186Phe) rs371930065 0.00003
NM_001105206.3(LAMA4):c.824A>G (p.Lys275Arg) rs183711657 0.00003
NM_004006.3(DMD):c.1462C>T (p.Arg488Cys) rs758932385 0.00003
NM_001267550.2(TTN):c.19289A>G (p.Tyr6430Cys) rs781726929 0.00002
NM_032578.4(MYPN):c.281C>G (p.Thr94Ser) rs377389861 0.00002
NM_007078.3(LDB3):c.1105A>G (p.Ser369Gly) rs181700296 0.00001
NM_144573.4(NEXN):c.1671GGA[2] (p.Glu561_Glu562del) rs397517848

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