ClinVar Miner

List of variants reported as likely benign for congenital anomaly of cardiovascular system by Mendelics

Included ClinVar conditions (334):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) rs28936670 0.01082
NM_001106.4(ACVR2B):c.119G>A (p.Arg40His) rs121434437 0.00398
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys) rs45454496 0.00235
NM_172201.2(KCNE2):c.40G>A (p.Val14Ile) rs142153692 0.00053
NM_001148.6(ANK2):c.11683G>A (p.Val3895Met) rs72556370 0.00007
NM_004387.4(NKX2-5):c.943G>T (p.Val315Leu) rs201249977 0.00002
NM_003413.4(ZIC3):c.135CGC[8] (p.Ala55del) rs748325646

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