ClinVar Miner

List of variants in gene VCL reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_014000.3(VCL):c.1317T>C (p.Ser439=) rs71579355 0.00442
NM_014000.3(VCL):c.3258+10A>T rs71579379 0.00267
NM_014000.3(VCL):c.2025G>A (p.Val675=) rs140766884 0.00256
NM_014000.3(VCL):c.1907A>G (p.His636Arg) rs71579374 0.00240
NM_014000.3(VCL):c.*646C>G rs41280414 0.00112
NM_014000.3(VCL):c.660C>T (p.Asn220=) rs56264452 0.00091
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu) rs141033098 0.00064
NM_014000.3(VCL):c.2468G>A (p.Arg823Gln) rs759202535 0.00006
NM_014000.3(VCL):c.1505G>A (p.Arg502Gln) rs201808867 0.00004
NM_014000.3(VCL):c.1352+5G>A rs374522164 0.00003
NM_014000.3(VCL):c.2038C>T (p.Arg680Cys) rs759356162 0.00002
NM_014000.3(VCL):c.2834T>C (p.Met945Thr) rs1443843519 0.00001
NM_014000.3(VCL):c.*1860_*1862del
NM_014000.3(VCL):c.1296A>G (p.Leu432=)
NM_014000.3(VCL):c.2230A>G (p.Ile744Val) rs1591713099
NM_014000.3(VCL):c.2237C>A (p.Pro746His) rs746821947
NM_014000.3(VCL):c.3099C>T (p.Ala1033=)
NM_014000.3(VCL):c.874+6_874+9del rs1591695419

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