ClinVar Miner

List of variants reported as likely benign for congenital heart disease by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (290):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_003098.3(SNTA1):c.1426-5T>C rs183939417 0.00221
NM_005751.5(AKAP9):c.5978-4A>G rs147494754 0.00175
NM_005751.5(AKAP9):c.10197T>C (p.Thr3399=) rs143627839 0.00148
NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys) rs61757671 0.00142
NM_003098.3(SNTA1):c.993C>T (p.Arg331=) rs143309917 0.00125
NM_001386795.1(DTNA):c.1088T>C (p.Leu363Ser) rs546236565 0.00121
NM_001386795.1(DTNA):c.1000G>A (p.Val334Met) rs148123045 0.00120
NM_005751.5(AKAP9):c.5369T>G (p.Val1790Gly) rs151021935 0.00082
NM_005751.5(AKAP9):c.10254G>C (p.Gln3418His) rs61757663 0.00065
NM_005751.5(AKAP9):c.10118C>A (p.Ser3373Tyr) rs140470576 0.00061
NM_005751.5(AKAP9):c.8468A>G (p.Gln2823Arg) rs376528503 0.00008
NM_001386795.1(DTNA):c.1532+16C>T rs562514105 0.00006
NM_005751.5(AKAP9):c.6330+3A>G rs771419309 0.00005
NM_001386795.1(DTNA):c.1994-18T>A rs772589214 0.00002
NM_001386795.1(DTNA):c.654C>A (p.Pro218=) rs1478981280
NM_003098.3(SNTA1):c.669G>A (p.Ser223=) rs199762207

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