ClinVar Miner

List of variants studied for Congenital heart disease by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.3508+10C>T rs41258454 0.00502
NM_003737.4(DCHS1):c.590C>T (p.Pro197Leu) rs145099391 0.00076
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_003737.4(DCHS1):c.1492C>T (p.Arg498Trp) rs200084780 0.00003
NM_004260.4(RECQL4):c.3072del (p.Val1026fs) rs386833852 0.00003
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_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_001077415.3(CRELD1):c.1259G>A (p.Arg420Lys)
NM_001111067.4(ACVR1):c.1142A>G (p.Tyr381Cys) rs2467919591
NM_001349338.3(FOXP1):c.1285A>G (p.Met429Val) rs1186591083
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_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_153210.5(USP43):c.2336-957_2336-956del

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