ClinVar Miner

List of variants reported as benign for Lowe syndrome by Invitae

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000276.4(OCRL):c.199+16C>G rs5977104 0.21795
NM_000276.4(OCRL):c.940-12C>T rs141800769 0.01112
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.2116-9C>T rs145297701 0.00159
NM_000276.4(OCRL):c.39+10G>A rs765141317 0.00132
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.239-20T>C rs376289741 0.00073
NM_000276.4(OCRL):c.954C>T (p.Arg318=) rs149646700 0.00035
NM_000276.4(OCRL):c.1506T>C (p.Leu502=) rs145936187 0.00026
NM_000276.4(OCRL):c.912T>G (p.Gly304=) rs190659938 0.00022
NM_000276.4(OCRL):c.105G>A (p.Arg35=) rs142321728 0.00020
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.939+8G>A rs369386155 0.00011
NM_000276.4(OCRL):c.1221G>A (p.Pro407=) rs747651906 0.00010
NM_000276.4(OCRL):c.561-7T>A rs376622194 0.00008
NM_000276.4(OCRL):c.284G>A (p.Arg95His) rs770375201 0.00006
NM_000276.4(OCRL):c.2245G>T (p.Ala749Ser) rs751678290 0.00005
NM_000276.4(OCRL):c.1395C>T (p.Asp465=) rs754797006 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.324C>T (p.Leu108=) rs754424104 0.00003
NM_000276.4(OCRL):c.1431T>C (p.Tyr477=) rs371330116 0.00002
NM_000276.4(OCRL):c.2582-9G>A rs2071705 0.00001
NM_000276.4(OCRL):c.101A>G (p.Gln34Arg)
NM_000276.4(OCRL):c.1083A>G (p.Arg361=)
NM_000276.4(OCRL):c.1128G>T (p.Leu376=)
NM_000276.4(OCRL):c.120-4C>T
NM_000276.4(OCRL):c.1245-10dup
NM_000276.4(OCRL):c.1391T>C (p.Val464Ala)
NM_000276.4(OCRL):c.200-11dup rs765652296
NM_000276.4(OCRL):c.200-4_200-3del rs753117153
NM_000276.4(OCRL):c.200-7dup
NM_000276.4(OCRL):c.2116-8G>T
NM_000276.4(OCRL):c.2341+12G>C
NM_000276.4(OCRL):c.235A>G (p.Asn79Asp)
NM_000276.4(OCRL):c.239-3dup
NM_000276.4(OCRL):c.2562C>T (p.Ser854=)
NM_000276.4(OCRL):c.2658T>A (p.Arg886=)
NM_000276.4(OCRL):c.439+10del
NM_000276.4(OCRL):c.864C>T (p.Tyr288=)

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