ClinVar Miner

List of variants studied for congenital anomaly of cardiovascular system by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

Included ClinVar conditions (333):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.4898G>A (p.Arg1633His) rs375018022 0.00064
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600 0.00061
NM_145020.5(CFAP53):c.46C>T (p.Pro16Ser) rs375198063 0.00023
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676 0.00014
NM_001103.4(ACTN2):c.1930G>A (p.Ala644Thr) rs146164600 0.00014
NM_000238.4(KCNH2):c.2944G>A (p.Asp982Asn) rs569452580 0.00010
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg) rs201583907 0.00006
NM_001379200.1(TBX1):c.1474G>A (p.Gly492Arg) rs541198585 0.00005
NM_002471.4(MYH6):c.3413G>A (p.Arg1138His) rs745801044 0.00004
NM_017780.4(CHD7):c.6088G>A (p.Val2030Ile) rs143796440 0.00004
NM_001379200.1(TBX1):c.1401C>G (p.Pro467=) rs753192876 0.00003
NM_012082.4(ZFPM2):c.1318A>G (p.Lys440Glu) rs200311467 0.00003
NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys) rs199472696 0.00001
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456 0.00001
NM_000218.3(KCNQ1):c.1032G>T (p.Ala344=) rs1800171
NM_000218.3(KCNQ1):c.757T>C (p.Ser253Pro) rs764781840
NM_000218.3(KCNQ1):c.796del (p.Leu266fs) rs397508125
NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys) rs74462309
NM_000257.4(MYH7):c.732+2T>G rs1555338658
NM_000335.5(SCN5A):c.1109C>T (p.Thr370Met) rs199473099
NM_000501.4(ELN):c.328G>A (p.Ala110Thr) rs137953195
NM_000891.3(KCNJ2):c.913A>G (p.Thr305Ala) rs199473387
NM_001077415.3(CRELD1):c.1049-376T>G rs73118372
NM_002474.3(MYH11):c.3728T>C (p.Leu1243Pro) rs1555554139
NM_053025.4(MYLK):c.3637G>A (p.Val1213Met) rs368390254

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