ClinVar Miner

List of variants in gene OCRL reported by Ambry Genetics

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Gene type:
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000276.4(OCRL):c.41C>T (p.Thr14Ile) rs61752970 0.00495
NM_000276.4(OCRL):c.897G>A (p.Met299Ile) rs138260625 0.00301
NM_000276.4(OCRL):c.439+3A>G rs61752971 0.00248
NM_000276.4(OCRL):c.1291G>A (p.Asp431Asn) rs137884245 0.00169
NM_000276.4(OCRL):c.40-5C>T rs201211377 0.00088
NM_000276.4(OCRL):c.1602+11G>A rs189554643 0.00075
NM_000276.4(OCRL):c.1657A>G (p.Ile553Val) rs773281269 0.00042
NM_000276.4(OCRL):c.954C>T (p.Arg318=) rs149646700 0.00035
NM_000276.4(OCRL):c.105G>A (p.Arg35=) rs142321728 0.00020
NM_000276.4(OCRL):c.350-5T>C rs200744251 0.00014
NM_000276.4(OCRL):c.428C>T (p.Ser143Phe) rs760751280 0.00014
NM_000276.4(OCRL):c.1184C>T (p.Ala395Val) rs145139567 0.00013
NM_000276.4(OCRL):c.2177G>T (p.Gly726Val) rs755071897 0.00013
NM_000276.4(OCRL):c.1221G>A (p.Pro407=) rs747651906 0.00010
NM_000276.4(OCRL):c.2563G>A (p.Val855Ile) rs376280495 0.00005
NM_000276.4(OCRL):c.50G>C (p.Gly17Ala) rs768913997 0.00005
NM_000276.4(OCRL):c.1467T>C (p.Ser489=) rs142398161 0.00004
NM_000276.4(OCRL):c.2694C>T (p.Ser898=) rs780742903 0.00004
NM_000276.4(OCRL):c.375G>T (p.Glu125Asp) rs773022942 0.00004
NM_000276.4(OCRL):c.1320T>G (p.Asn440Lys) rs761140161 0.00002
NM_000276.4(OCRL):c.1336A>G (p.Arg446Gly) rs771429717 0.00002
NM_000276.4(OCRL):c.2066G>A (p.Arg689His) rs748186190 0.00002
NM_000276.4(OCRL):c.769G>A (p.Gly257Arg) rs1388273402 0.00002
NM_000276.4(OCRL):c.1104C>T (p.Thr368=) rs1457897461 0.00001
NM_000276.4(OCRL):c.101A>G (p.Gln34Arg)
NM_000276.4(OCRL):c.109G>A (p.Gly37Arg) rs767054196
NM_000276.4(OCRL):c.1275T>C (p.Tyr425=)
NM_000276.4(OCRL):c.1541G>A (p.Arg514Gln)
NM_000276.4(OCRL):c.1585G>T (p.Ala529Ser)
NM_000276.4(OCRL):c.1621C>T (p.Arg541Ter) rs1182741031
NM_000276.4(OCRL):c.166A>G (p.Ile56Val)
NM_000276.4(OCRL):c.1713+2T>G
NM_000276.4(OCRL):c.1718T>C (p.Val573Ala)
NM_000276.4(OCRL):c.2070G>C (p.Met690Ile)
NM_000276.4(OCRL):c.2204C>A (p.Pro735His)
NM_000276.4(OCRL):c.2323A>G (p.Ser775Gly)
NM_000276.4(OCRL):c.825-8T>C

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