ClinVar Miner

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

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000276.4(OCRL):c.439+3A>G rs61752971 0.00248
NM_000276.4(OCRL):c.2680T>A (p.Phe894Ile) rs147629352 0.00024
NM_000276.4(OCRL):c.152A>G (p.His51Arg) rs764804719 0.00020
NM_000276.4(OCRL):c.2415C>T (p.Tyr805=) rs377180274 0.00014
NM_000276.4(OCRL):c.2177G>T (p.Gly726Val) rs755071897 0.00013
NM_000276.4(OCRL):c.441G>A (p.Gly147=) rs199624352 0.00003
GRCh37/hg19 Xq26.1(chrX:128720979-128721095)x0
NM_000276.4(OCRL):c.101A>G (p.Gln34Arg)
NM_000276.4(OCRL):c.109G>C (p.Gly37Arg) rs767054196
NM_000276.4(OCRL):c.1565G>A (p.Ser522Asn) rs2124412853
NM_000276.4(OCRL):c.1570C>T (p.His524Tyr) rs1057521952
NM_000276.4(OCRL):c.1654C>T (p.Arg552Cys)
NM_000276.4(OCRL):c.1737del (p.Arg580fs) rs2124418469
NM_000276.4(OCRL):c.1935C>A (p.Ile645=) rs2124418968
NM_000276.4(OCRL):c.2139+4A>G rs1556356726
NM_000276.4(OCRL):c.2235A>G (p.Leu745=)
NM_000276.4(OCRL):c.2341+1G>A rs1602818783
NM_000276.4(OCRL):c.2357_2358del (p.Ser786fs) rs1936551332
NM_000276.4(OCRL):c.238+3G>A
NM_000276.4(OCRL):c.471T>G (p.Ser157=) rs747396791
NM_000276.4(OCRL):c.497C>A (p.Ser166Ter) rs1936098220
NM_000276.4(OCRL):c.799A>G (p.Asn267Asp)
NM_000276.4(OCRL):c.945A>G (p.Gln315=)

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