ClinVar Miner

List of variants reported as likely pathogenic for congenital heart disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (290):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr) rs199472910 0.00001
NM_001148.6(ANK2):c.10858T>A (p.Trp3620Arg) rs199473346 0.00001
NM_000218.3(KCNQ1):c.1032+2T>C rs1848538318
NM_000238.4(KCNH2):c.1591C>T (p.Arg531Trp) rs199472915
NM_000257.4(MYH7):c.1559G>T (p.Cys520Phe) rs1892789510
NM_002253.4(KDR):c.2614+1G>A
NM_022114.4(PRDM16):c.2134C>T (p.Gln712Ter)

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