ClinVar Miner

List of variants reported for Congenital hydrocephalus by Yale Center for Mendelian Genomics, Yale University

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001039111.3(TRIM71):c.2450G>A (p.Arg817Gln) rs1045177462 0.00001
NC_000005.9:g.154735732_155604899dup
NC_000005.9:g.155599390_155755985dup
NC_000005.9:g.170591818_170713790dup
NC_000005.9:g.170814836_171100000dup
NC_000005.9:g.172068277_172342131dup
NM_000264.5(PTCH1):c.1503+3A>G rs878853846
NM_000264.5(PTCH1):c.1991_1997del (p.Leu664fs) rs1588574984
NM_000264.5(PTCH1):c.456_457del (p.Met152fs) rs1588622713
NM_001039111.3(TRIM71):c.1886G>A (p.Arg629His) rs1575362239
NM_003074.4(SMARCC1):c.1242_1243dup (p.Thr415fs) rs1576412227
NM_003074.4(SMARCC1):c.1577A>C (p.His526Pro) rs1576408057
NM_003074.4(SMARCC1):c.1589_1590insAGTGGGGACTC (p.Gln531fs) rs1576408050
NM_003074.4(SMARCC1):c.2672del (p.Lys891fs) rs1576390243
NM_003074.4(SMARCC1):c.535A>T (p.Lys179Ter) rs1576426439
NM_016338.5(IPO11):c.-6-1400_138+1704dup

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