ClinVar Miner

List of variants studied for congenital anomaly of cardiovascular system by Institute of Human Genetics, University of Goettingen

Included ClinVar conditions (334):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1882G>A (p.Gly628Ser) rs745990205 0.00002
NM_003098.3(SNTA1):c.25C>T (p.Arg9Cys) rs886039012 0.00002
NM_001148.6(ANK2):c.767G>C (p.Gly256Ala) rs1276798019 0.00001
GRCh37/hg19 11p14.1(chr11:30834034-30902723)x3
GRCh37/hg19 Xp22.33(chrX:2766830-2920785)x2
NM_000238.4(KCNH2):c.2675_2679dup (p.Arg894fs) rs1131692183
NM_000238.4(KCNH2):c.76+2T>A rs794728419
NM_000335.5(SCN5A):c.3866C>T (p.Thr1289Ile) rs2125844123
NM_000719.7(CACNA1C):c.4436T>C (p.Phe1479Ser) rs2096050688
NM_001018005.2(TPM1):c.256G>A (p.Ala86Thr) rs2034911718
NM_172201.2(KCNE2):c.247C>G (p.Pro83Ala) rs1979548748

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