ClinVar Miner

List of variants reported as uncertain significance by Institute for Human Genetics, University Hospital Essen

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_006940.6(SOX5):c.703C>T (p.Arg235Cys) rs780207349 0.00002
NM_006940.6(SOX5):c.2078C>T (p.Ser693Leu) rs1463087817 0.00001
NM_006950.3(SYN1):c.340A>G (p.Arg114Gly) rs760804604 0.00001
NC_000001.11:g.148263588C>T
NC_000002.12:g.121530895G>C rs750325275
NM_006940.6(SOX5):c.1895C>A (p.Thr632Asn) rs1135401816
NM_006940.6(SOX5):c.928T>A (p.Cys310Ser) rs1593089328
NM_006950.3(SYN1):c.1072G>A (p.Asp358Asn) rs2519686633
NM_006950.3(SYN1):c.1121C>T (p.Ala374Val) rs2519686592
NM_006950.3(SYN1):c.614T>A (p.Leu205Gln) rs2057892972
NM_006950.3(SYN1):c.614_616dup (p.Leu205_Gln206insLeu) rs2519705425
NM_006950.3(SYN1):c.774G>T (p.Met258Ile) rs2519705218
NM_015557.3(CHD5):c.815C>T (p.Ala272Val) rs2100866749
NR_002753.5(RNU5F-1):n.115C>A
NR_002753.5(RNU5F-1):n.47A>C
NR_002753.5(RNU5F-1):n.79T>A
NR_002754.2(RNU5E-1):n.21C>A
NR_002754.2(RNU5E-1):n.90_91insA
NR_002756.2(RNU5A-1):n.38C>T
NR_002756.2(RNU5A-1):n.39del
NR_002756.2(RNU5A-1):n.40_41insA
NR_002756.2(RNU5A-1):n.62G>A
NR_002756.2(RNU5A-1):n.73C>T
NR_002757.3(RNU5B-1):n.24G>A
NR_002757.3(RNU5B-1):n.24G>C
NR_002757.3(RNU5B-1):n.37G>C
NR_002757.3(RNU5B-1):n.37G>T
NR_002757.3(RNU5B-1):n.38C>T
NR_002757.3(RNU5B-1):n.43dup
NR_002757.3(RNU5B-1):n.74T>C
NR_003137.3(RNU4-2):n.111C>T
NR_003137.3(RNU4-2):n.45_46insT
NR_003137.3(RNU4-2):n.76del
NR_003137.3(RNU4-2):n.92C>G
NR_003925.1(RNU4-1):n.96T>G
NR_004400.1(RNVU1-18):n.25C>G
NR_004400.1(RNVU1-18):n.3A>G
NR_004427.1(RNU1-2):n.30T>C
NR_004427.1(RNU1-2):n.45T>C
NR_023344.1(RNU6ATAC):n.30C>T
NR_104075.1(RNVU1-14):n.108T>G
NR_104075.1(RNVU1-14):n.76G>T
NR_104076.1(RNVU1-15):n.82C>G
NR_104076.1(RNVU1-15):n.98dup
NR_104080.1(RNU6-9):n.7G>C
NR_104086.2(RNVU1-19):n.52A>G
NR_104088.1(RNU6-8):n.98C>T
NR_125730.1(RNU6-2):n.55_56insG
NR_125730.1(RNU6-2):n.73A>G
NR_189288.1(RNVU1-27):n.100C>G

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