ClinVar Miner

List of variants studied 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: 48
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HGVS dbSNP gnomAD frequency
NM_005751.5(AKAP9):c.1389G>T (p.Met463Ile) rs6964587 0.41920
NM_003098.3(SNTA1):c.807T>C (p.Asn269=) rs73270015 0.02196
NM_001386795.1(DTNA):c.1903+8G>A rs111817603 0.01438
NM_003098.3(SNTA1):c.1350C>T (p.Phe450=) rs116747979 0.01203
NM_001386795.1(DTNA):c.1821G>A (p.Ala607=) rs9959365 0.00984
NM_003098.3(SNTA1):c.828G>A (p.Lys276=) rs35938843 0.00969
NM_001386795.1(DTNA):c.537G>T (p.Thr179=) rs11877640 0.00956
NM_003098.3(SNTA1):c.555C>T (p.Val185=) rs34995247 0.00948
NM_001386795.1(DTNA):c.2162+14G>A rs76713874 0.00820
NM_005751.5(AKAP9):c.139C>T (p.His47Tyr) rs35669569 0.00775
NM_003098.3(SNTA1):c.166C>T (p.Pro56Ser) rs573772189 0.00585
NM_001386795.1(DTNA):c.210G>A (p.Leu70=) rs117571555 0.00459
NM_001386795.1(DTNA):c.243A>G (p.Leu81=) rs146923532 0.00285
NM_003098.3(SNTA1):c.1426-5T>C rs183939417 0.00221
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) rs56157422 0.00217
NM_001386795.1(DTNA):c.1176-8T>C rs41274310 0.00216
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.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_005751.5(AKAP9):c.80C>T (p.Ser27Leu) rs142401936 0.00137
NM_003098.3(SNTA1):c.993C>T (p.Arg331=) rs143309917 0.00125
NM_001386795.1(DTNA):c.604-14G>T rs397517447 0.00123
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.6249C>T (p.Phe2083=) rs139770404 0.00113
NM_005751.5(AKAP9):c.5369T>G (p.Val1790Gly) rs151021935 0.00082
NM_005751.5(AKAP9):c.7166A>G (p.Asp2389Gly) rs140782750 0.00074
NM_005751.5(AKAP9):c.10254G>C (p.Gln3418His) rs61757663 0.00065
NM_005751.5(AKAP9):c.3223T>C (p.Leu1075=) rs143712699 0.00064
NM_005751.5(AKAP9):c.10118C>A (p.Ser3373Tyr) rs140470576 0.00061
NM_005751.5(AKAP9):c.3246A>G (p.Ser1082=) rs760173622 0.00021
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_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_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_001386795.1(DTNA):c.1744-10G>T rs192561043
NM_001386795.1(DTNA):c.654C>A (p.Pro218=) rs1478981280
NM_003098.3(SNTA1):c.669G>A (p.Ser223=) rs199762207
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)

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