ClinVar Miner

List of variants reported as uncertain significance for congenital heart disease by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (289):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_001018005.2(TPM1):c.772+163G>C rs190305952 0.00252
NM_001167623.2(CACNA1C):c.3883A>G (p.Ile1295Val) rs114851656 0.00169
NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp) rs121912706 0.00094
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705 0.00077
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421 0.00066
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636 0.00063
NM_022114.4(PRDM16):c.2449G>A (p.Gly817Ser) rs375308440 0.00057
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127 0.00048
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706 0.00048
NM_003098.3(SNTA1):c.784A>C (p.Thr262Pro) rs200316080 0.00041
NM_000335.5(SCN5A):c.1340C>G (p.Ala447Gly) rs199473113 0.00024
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys) rs34591340 0.00023
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn) rs371140684 0.00021
NM_174934.4(SCN4B):c.18C>A (p.Asp6Glu) rs149979176 0.00021
NM_001308093.3(GATA4):c.392C>G (p.Ala131Gly) rs1013984246 0.00019
NM_001386795.1(DTNA):c.*2600C>T rs794729006 0.00019
NM_005751.5(AKAP9):c.1204G>A (p.Glu402Lys) rs146022334 0.00019
NM_005257.6(GATA6):c.1663C>G (p.Pro555Ala) rs146243018 0.00018
NM_001148.6(ANK2):c.7148C>T (p.Pro2383Leu) rs35960628 0.00017
NM_000238.4(KCNH2):c.355G>C (p.Asp119His) rs376308069 0.00015
NM_000335.5(SCN5A):c.2071G>A (p.Ala691Thr) rs199473146 0.00012
NM_001148.6(ANK2):c.2900+5141G>A rs373770811 0.00011
NM_002471.4(MYH6):c.4264C>T (p.Arg1422Trp) rs200465713 0.00010
NM_000256.3(MYBPC3):c.1565C>T (p.Ala522Val) rs370362589 0.00009
NM_000238.4(KCNH2):c.1341C>T (p.Tyr447=) rs367570298 0.00008
NM_000719.7(CACNA1C):c.2854-4G>A rs113929946 0.00007
NM_000335.5(SCN5A):c.3047C>T (p.Thr1016Met) rs199473185 0.00006
NM_001148.6(ANK2):c.8176A>G (p.Thr2726Ala) rs781344591 0.00006
NM_005751.5(AKAP9):c.5680A>G (p.Lys1894Glu) rs137971303 0.00006
NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr) rs200303340 0.00005
NM_001148.6(ANK2):c.7499C>T (p.Thr2500Met) rs200377748 0.00004
NM_001148.6(ANK2):c.8395G>A (p.Asp2799Asn) rs374145576 0.00004
NM_001276345.2(TNNT2):c.248A>G (p.Asn83Ser) rs397516450 0.00004
NM_005751.5(AKAP9):c.8189A>G (p.Gln2730Arg) rs80191629 0.00004
NM_001379200.1(TBX1):c.351C>T (p.Ala117=) rs757290764 0.00003
NM_002471.4(MYH6):c.49C>T (p.Arg17Cys) rs1131691313 0.00003
NM_003098.3(SNTA1):c.817C>T (p.Pro273Ser) rs750459988 0.00003
NM_004387.4(NKX2-5):c.827C>G (p.Ala276Gly) rs751564052 0.00003
NM_022114.4(PRDM16):c.776C>T (p.Ala259Val) rs769041652 0.00003
NM_000238.4(KCNH2):c.3139C>T (p.Arg1047Cys) rs377095107 0.00002
NM_000257.4(MYH7):c.3056C>A (p.Thr1019Asn) rs755392435 0.00002
NM_001148.6(ANK2):c.1627G>A (p.Val543Met) rs749734339 0.00002
NM_002471.4(MYH6):c.4438A>G (p.Ser1480Gly) rs930701630 0.00002
NM_000238.4(KCNH2):c.1713C>T (p.Ile571=) rs768652751 0.00001
NM_000256.3(MYBPC3):c.2915G>A (p.Arg972Gln) rs761696555 0.00001
NM_000335.5(SCN5A):c.2314G>A (p.Asp772Asn) rs199473157 0.00001
NM_000335.5(SCN5A):c.458C>T (p.Pro153Leu) rs1298498462 0.00001
NM_000335.5(SCN5A):c.65C>T (p.Ala22Val) rs776925980 0.00001
NM_001148.6(ANK2):c.4393C>A (p.Gln1465Lys) rs761254386 0.00001
NM_005751.5(AKAP9):c.509A>T (p.Glu170Val) rs539375675 0.00001
NM_000218.3(KCNQ1):c.387-6394G>C
NM_000218.3(KCNQ1):c.899C>A (p.Ala300Glu) rs1001293702
NM_000238.4(KCNH2):c.1325C>T (p.Ala442Val) rs1554426225
NM_000238.4(KCNH2):c.2050A>G (p.Ile684Val) rs2116955179
NM_000238.4(KCNH2):c.2592+3G>A rs906562788
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1]) rs551056698
NM_000335.5(SCN5A):c.1109C>T (p.Thr370Met) rs199473099
NM_000335.5(SCN5A):c.1794T>C (p.Asn598=) rs2061958215
NM_000335.5(SCN5A):c.3530G>C (p.Cys1177Ser) rs1169229420
NM_000335.5(SCN5A):c.3564G>A (p.Lys1188=) rs1375890695
NM_000335.5(SCN5A):c.3877G>A (p.Ala1293Thr)
NM_000335.5(SCN5A):c.4613G>A (p.Cys1538Tyr) rs770780069
NM_000335.5(SCN5A):c.5372A>T (p.Asp1791Val) rs774917987
NM_000719.7(CACNA1C):c.5150C>T (p.Ala1717Val) rs201492706
NM_001018005.2(TPM1):c.772+63A>G
NM_001148.6(ANK2):c.614C>A (p.Thr205Asn) rs1060501163
NM_001379200.1(TBX1):c.1073C>G (p.Ala358Gly) rs1452987245
NM_001379200.1(TBX1):c.823G>A (p.Glu275Lys) rs144848597
NM_001386795.1(DTNA):c.1561C>T (p.Arg521Trp)
NM_001451.3(FOXF1):c.166C>T (p.Leu56Phe)
NM_001451.3(FOXF1):c.47_48insGCGGCGGCGGCGGGGGAG (p.Gly16_Gly17insArgArgArgArgGlySer)
NM_001743.6(CALM2):c.104C>A (p.Thr35Asn)
NM_005257.6(GATA6):c.202G>C (p.Glu68Gln)
NM_005751.5(AKAP9):c.10888A>G (p.Arg3630Gly)
NM_005751.5(AKAP9):c.11230G>T (p.Gly3744Trp) rs200327385
NM_005751.5(AKAP9):c.406GAA[2] (p.Glu138del)
NM_005751.5(AKAP9):c.665A>G (p.Asp222Gly)
NM_005751.5(AKAP9):c.8345C>T (p.Thr2782Ile) rs543634397
NM_007078.3(LDB3):c.389_390insCAGGCACCC (p.Pro130_Gly131insArgHisPro)
NM_022114.4(PRDM16):c.2780A>C (p.His927Pro) rs763577669
NM_022114.4(PRDM16):c.2809C>A (p.Pro937Thr) rs374972823

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