ClinVar Miner

List of variants reported as likely pathogenic for Supravalvar aortic stenosis

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000501.4(ELN):c.1150+1G>A rs727503030 0.00006
NM_000501.4(ELN):c.164-2A>C rs782096458 0.00004
NM_000501.4(ELN):c.1577-2A>T rs1230920104 0.00001
NM_000501.4(ELN):c.1994-2A>C rs1440841207 0.00001
NM_000501.4(ELN):c.2032+1G>A rs781859711 0.00001
NM_000501.4(ELN):c.686-2A>G rs782390271 0.00001
NM_000501.2(ELN):c.1153delG rs727503031
NM_000501.4(ELN):c.1069_1091del (p.Ala357fs)
NM_000501.4(ELN):c.1245dup (p.Gly416fs) rs1795220933
NM_000501.4(ELN):c.1414+1G>C
NM_000501.4(ELN):c.1576+1G>A rs782674700
NM_000501.4(ELN):c.1576+2T>A
NM_000501.4(ELN):c.1621+1G>A rs782279081
NM_000501.4(ELN):c.1733del (p.Pro578fs) rs727503782
NM_000501.4(ELN):c.1747+100G>C
NM_000501.4(ELN):c.1858G>T (p.Gly620Ter) rs727503034
NM_000501.4(ELN):c.1919-1G>A rs1797218441
NM_000501.4(ELN):c.2033-1G>C
NM_000501.4(ELN):c.2151del (p.Ala718fs) rs2132828209
NM_000501.4(ELN):c.326-1G>T
NM_000501.4(ELN):c.377-1G>T rs1554669774
NM_000501.4(ELN):c.470-37_470del rs1563793627
NM_000501.4(ELN):c.542-1G>C
NM_000501.4(ELN):c.542-2A>T rs782528759
NM_000501.4(ELN):c.643+1G>C rs1131691482
NM_000501.4(ELN):c.686-1G>A rs1583818183
NM_000501.4(ELN):c.741del (p.Thr248fs) rs727503026
NM_000501.4(ELN):c.746-2A>T
NM_000501.4(ELN):c.889+1G>C rs782238674

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