ClinVar Miner

List of variants studied for Congenital heart disease

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_001308093.3(GATA4):c.617-113T>C rs3735819 0.80128
NM_001308093.3(GATA4):c.1000+56C>A rs804280 0.61291
NM_001308093.3(GATA4):c.1150-107A>G rs745379 0.38644
NM_001308093.3(GATA4):c.*1256A>T rs12458 0.34439
NM_001308093.3(GATA4):c.*852G>A rs804290 0.15840
NM_001308093.3(GATA4):c.617-61G>C rs10503425 0.10765
NM_001308093.3(GATA4):c.1000+200G>A rs3729851 0.09324
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) rs28936670 0.01082
NM_001308093.3(GATA4):c.912+25G>A rs147860174 0.00540
NM_000335.5(SCN5A):c.3508+10C>T rs41258454 0.00502
NM_001308093.3(GATA4):c.*1168T>C rs549543886 0.00185
NM_003737.4(DCHS1):c.590C>T (p.Pro197Leu) rs145099391 0.00076
NM_004387.4(NKX2-5):c.61G>C (p.Glu21Gln) rs104893904 0.00073
NM_001372.4(DNAH9):c.4719T>G (p.Tyr1573Ter) rs200681631 0.00021
NM_004525.3(LRP2):c.7384_7390+8dup rs587780382 0.00021
NM_013266.4(CTNNA3):c.1937G>A (p.Arg646His) rs370269225 0.00007
NM_003737.4(DCHS1):c.6406G>A (p.Val2136Met) rs137996181 0.00005
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn) rs56208331 0.00003
NM_003737.4(DCHS1):c.1492C>T (p.Arg498Trp) rs200084780 0.00003
NM_004260.4(RECQL4):c.3072del (p.Val1026fs) rs386833852 0.00003
NM_000432.4(MYL2):c.436G>A (p.Val146Met) rs370075755 0.00002
NM_001111067.4(ACVR1):c.361C>T (p.His121Tyr) rs756858830 0.00002
NM_013266.4(CTNNA3):c.67G>A (p.Val23Met) rs776250185 0.00002
NM_000088.4(COL1A1):c.336A>T (p.Gly112=) rs749946056 0.00001
NM_000264.5(PTCH1):c.2945G>A (p.Arg982Gln) rs145924695 0.00001
NM_001302461.2(KLF13):c.728C>T (p.Ala243Val) rs969811939 0.00001
NM_001308093.3(GATA4):c.25G>A (p.Ala9Thr) rs864321699 0.00001
NM_001372.4(DNAH9):c.4030C>T (p.Arg1344Ter) rs760026221 0.00001
NM_001386795.1(DTNA):c.1483G>A (p.Ala495Thr) rs1190400190 0.00001
NM_003737.4(DCHS1):c.7649C>A (p.Ala2550Glu) rs1031503637 0.00001
NM_003737.4(DCHS1):c.8638G>A (p.Gly2880Arg) rs1383439621 0.00001
NM_018670.4(MESP1):c.139C>G (p.Pro47Ala) rs933736116 0.00001
NM_000432.4(MYL2):c.473T>C (p.Ile158Thr) rs2136767620
NM_001077415.3(CRELD1):c.1259G>A (p.Arg420Lys)
NM_001111067.4(ACVR1):c.1142A>G (p.Tyr381Cys) rs2467919591
NM_001308093.3(GATA4):c.1000+103G>T rs113049875
NM_001308093.3(GATA4):c.1000+2T>G rs864321705
NM_001308093.3(GATA4):c.1001-26G>A rs1554498708
NM_001308093.3(GATA4):c.1149+129C>T rs116052854
NM_001308093.3(GATA4):c.1149+177C>T rs12156163
NM_001308093.3(GATA4):c.1266C>T (p.Ser422=) rs864321704
NM_001308093.3(GATA4):c.23C>A (p.Ala8Asp) rs864321698
NM_001308093.3(GATA4):c.27C>A (p.Ala9=) rs864321703
NM_001308093.3(GATA4):c.383A>T (p.Glu128Val) rs864321700
NM_001308093.3(GATA4):c.397A>T (p.Ser133Cys) rs864321701
NM_001308093.3(GATA4):c.685T>A (p.Trp229Arg) rs864321702
NM_001308093.3(GATA4):c.913-55T>C rs1554498312
NM_001349338.3(FOXP1):c.1285A>G (p.Met429Val) rs1186591083
NM_001349999.2(RBFOX2):c.234C>G (p.Ser78Arg)
NM_003737.4(DCHS1):c.2750G>C (p.Arg917Pro)
NM_003737.4(DCHS1):c.7582G>A (p.Gly2528Ser)
NM_004260.4(RECQL4):c.236_237insCA (p.Pro80fs) rs2538113308
NM_004387.4(NKX2-5):c.182C>G (p.Ala61Gly) rs864321650
NM_004387.4(NKX2-5):c.335-12G>A rs864321646
NM_004387.4(NKX2-5):c.335-1G>T rs864321645
NM_004387.4(NKX2-5):c.335-20G>A rs864321647
NM_004387.4(NKX2-5):c.391G>A (p.Glu131Lys) rs864321648
NM_004387.4(NKX2-5):c.443C>A (p.Ala148Glu) rs864321649
NM_013266.4(CTNNA3):c.-5-1250G>T
NM_013266.4(CTNNA3):c.1048G>C (p.Ala350Pro)
NM_013266.4(CTNNA3):c.168T>A (p.Ser56Arg)
NM_013266.4(CTNNA3):c.1775C>G (p.Ala592Gly) rs768797369
NM_017588.3(WDR5):c.*1943_*1944del rs1485562050
NM_153210.5(USP43):c.2336-957_2336-956del
NM_206943.4(LTBP1):c.340C>T (p.Pro114Ser) rs2148156761

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