ClinVar Miner

List of variants reported as uncertain significance for congenital anomaly of cardiovascular system by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (334):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) rs56157422 0.00217
NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr) rs139872140 0.00207
NM_003098.3(SNTA1):c.221C>T (p.Pro74Leu) rs572545726 0.00198
NM_005751.5(AKAP9):c.7166A>G (p.Asp2389Gly) rs140782750 0.00074
NM_003098.3(SNTA1):c.101G>A (p.Ser34Asn) rs963277918 0.00009
NM_005751.5(AKAP9):c.6896A>G (p.Glu2299Gly) rs147841245 0.00009
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) rs121909283 0.00004
NM_003098.3(SNTA1):c.1255C>T (p.Arg419Cys) rs375515058 0.00001
NM_003098.3(SNTA1):c.459G>T (p.Gln153His) rs1471172997 0.00001
NM_001077653.2(TBX20):c.117C>G (p.Ile39Met) rs1562569196
NM_005751.5(AKAP9):c.3113T>C (p.Val1038Ala) rs1584047508
NM_005751.5(AKAP9):c.5153C>A (p.Ser1718Tyr) rs1584285416
NM_015103.3(PLXND1):c.2870C>T (p.Pro957Leu)
NM_138295.5(PKD1L1):c.2005A>G (p.Ile669Val)

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