ClinVar Miner

List of variants reported as uncertain significance 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: 26
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HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684 0.00061
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.720-7C>T rs376303087 0.00004
NM_000256.3(MYBPC3):c.682G>A (p.Asp228Asn) rs369300885 0.00002
NM_000218.3(KCNQ1):c.575G>A (p.Arg192His) rs199472698 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
GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1
NM_000218.3(KCNQ1):c.1667_1679del (p.Ile556fs) rs1846691402
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs) rs397508104
NM_000256.3(MYBPC3):c.1543_1545del (p.Asn515del) rs730880643
NM_000257.4(MYH7):c.1614C>A (p.Cys538Ter) rs1892756939
NM_000257.4(MYH7):c.2704G>A (p.Glu902Lys) rs869130333
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_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.3503_3505dup (p.Gly1168dup) rs148625921
NM_002941.4(ROBO1):c.4786AAT[1] (p.Asn1597del) rs1703092518

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