ClinVar Miner

List of variants studied for congenital heart disease by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (290):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684 0.00061
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422 0.00061
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457 0.00053
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851 0.00024
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_000238.4(KCNH2):c.3278C>T (p.Pro1093Leu) rs199473545 0.00007
NM_000257.4(MYH7):c.4348G>A (p.Asp1450Asn) rs397516211 0.00004
NM_001276345.2(TNNT2):c.248A>G (p.Asn83Ser) rs397516450 0.00004
NM_001276345.2(TNNT2):c.720-7C>T rs376303087 0.00004
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200 0.00003
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_000256.3(MYBPC3):c.682G>A (p.Asp228Asn) rs369300885 0.00002
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter) rs397508097 0.00001
NM_000218.3(KCNQ1):c.287C>G (p.Thr96Arg) rs1337409061 0.00001
NM_000218.3(KCNQ1):c.575G>A (p.Arg192His) rs199472698 0.00001
NM_000218.3(KCNQ1):c.683+5G>A rs397508122 0.00001
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His) rs199472720 0.00001
NM_000238.4(KCNH2):c.2350C>T (p.Arg784Trp) rs12720441 0.00001
NM_000256.3(MYBPC3):c.1549G>T (p.Ala517Ser) rs1565627873 0.00001
NM_000256.3(MYBPC3):c.493G>A (p.Glu165Lys) rs867067602 0.00001
NM_000257.4(MYH7):c.2644C>G (p.Gln882Glu) rs397516160 0.00001
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584 0.00001
NM_000335.5(SCN5A):c.674G>A (p.Arg225Gln) rs199473071 0.00001
NM_002941.4(ROBO1):c.355C>T (p.Arg119Ter) rs1017845770 0.00001
NM_002941.4(ROBO1):c.928C>T (p.Arg310Ter) rs1431830142 0.00001
GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1
GRCh37/hg19 3p12.3(chr3:78653578-79071345)x1
NM_000218.3(KCNQ1):c.1278del (p.Asp426fs) rs1848629484
NM_000218.3(KCNQ1):c.1667_1679del (p.Ile556fs) rs1846691402
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs) rs397508104
NM_000218.3(KCNQ1):c.552del (p.Lys183_Tyr184insTer) rs1848319796
NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu) rs120074178
NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu) rs120074186
NM_000218.3(KCNQ1):c.958C>T (p.Pro320Ser) rs199472753
NM_000238.4(KCNH2):c.1754G>A (p.Trp585Ter)
NM_000238.4(KCNH2):c.2676del (p.Arg893fs) rs1801005389
NM_000256.3(MYBPC3):c.1223+1G>T rs730880639
NM_000256.3(MYBPC3):c.1543_1545del (p.Asn515del) rs730880643
NM_000256.3(MYBPC3):c.999C>A (p.Tyr333Ter) rs367947846
NM_000257.4(MYH7):c.1614C>A (p.Cys538Ter) rs1892756939
NM_000257.4(MYH7):c.2163-1G>A rs606231334
NM_000257.4(MYH7):c.2513C>T (p.Pro838Leu) rs397516153
NM_000257.4(MYH7):c.2704G>A (p.Glu902Lys) rs869130333
NM_000257.4(MYH7):c.2761G>A (p.Glu921Lys) rs730880759
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000257.4(MYH7):c.3847G>A (p.Glu1283Lys) rs1892375580
NM_000257.4(MYH7):c.571G>A (p.Val191Ile) rs2138682370
NM_000719.7(CACNA1C):c.583T>C (p.Trp195Arg) rs2154562876
NM_001012426.2(FOXP4):c.1540G>A (p.Ala514Thr) rs2127404974
NM_001276345.2(TNNT2):c.431G>C (p.Arg144Pro) rs754037135
NM_001492.6(GDF1):c.537del (p.Pro180fs)
NM_002941.4(ROBO1):c.1420C>T (p.Leu474Phe) rs1707986653
NM_002941.4(ROBO1):c.2840-1G>C rs1706274257
NM_002941.4(ROBO1):c.3503_3505dup (p.Gly1168dup) rs148625921
NM_002941.4(ROBO1):c.4786AAT[1] (p.Asn1597del) rs1703092518
NM_003221.4(TFAP2B):c.981C>A (p.Cys327Ter)

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