ClinVar Miner

List of variants reported as likely benign for Occult macular dystrophy by Illumina Laboratory Services, Illumina

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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_178857.6(RP1L1):c.2398C>A (p.Pro800Thr) rs142820770 0.00472
NM_178857.6(RP1L1):c.1870G>A (p.Ala624Thr) rs141846905 0.00377
NM_178857.6(RP1L1):c.407G>A (p.Arg136His) rs189960401 0.00242
NM_178857.6(RP1L1):c.2383G>A (p.Glu795Lys) rs199746022 0.00080
NM_178857.6(RP1L1):c.324_325insT (p.Pro109fs) rs138816053 0.00057
NM_178857.6(RP1L1):c.2261C>T (p.Pro754Leu) rs377368052 0.00029
NM_178857.6(RP1L1):c.337C>T (p.Pro113Ser) rs201245739 0.00024
NM_178857.6(RP1L1):c.67C>T (p.Arg23Cys) rs188979626 0.00021
NM_178857.6(RP1L1):c.2028C>G (p.Ser676Arg) rs200474804 0.00016
NM_178857.6(RP1L1):c.9C>T (p.Ser3=) rs367930443 0.00016
NM_178857.6(RP1L1):c.4594G>A (p.Ala1532Thr) rs200131312 0.00012
NM_178857.6(RP1L1):c.2751G>A (p.Ala917=) rs373883834 0.00011
NM_178857.6(RP1L1):c.1617C>T (p.Thr539=) rs370508607 0.00010
NM_178857.6(RP1L1):c.2456G>C (p.Gly819Ala) rs201576854 0.00010
NM_178857.6(RP1L1):c.2732G>T (p.Ser911Ile) rs757352407 0.00010
NM_178857.6(RP1L1):c.4542C>T (p.Cys1514=) rs773430949 0.00010
NM_178857.6(RP1L1):c.4273G>C (p.Asp1425His) rs201205913 0.00009
NM_178857.6(RP1L1):c.3286C>T (p.Arg1096Trp) rs375119596 0.00008
NM_178857.6(RP1L1):c.4837C>A (p.Leu1613Met) rs181095314 0.00008
NM_178857.6(RP1L1):c.117C>G (p.Leu39=) rs751004024 0.00007
NM_178857.6(RP1L1):c.2498C>T (p.Pro833Leu) rs562405102 0.00007
NM_178857.6(RP1L1):c.292G>A (p.Asp98Asn) rs372108562 0.00007
NM_178857.6(RP1L1):c.1067A>T (p.Asp356Val) rs750107135 0.00006
NM_178857.6(RP1L1):c.1268G>C (p.Arg423Pro) rs566321002 0.00006
NM_178857.6(RP1L1):c.2629C>T (p.His877Tyr) rs770403429 0.00006
NM_178857.6(RP1L1):c.40C>T (p.Arg14Cys) rs765708710 0.00006
NM_178857.6(RP1L1):c.5326A>T (p.Thr1776Ser) rs199996267 0.00006
NM_178857.6(RP1L1):c.7097C>T (p.Ala2366Val) rs200330477 0.00006
NM_178857.6(RP1L1):c.1378G>A (p.Gly460Ser) rs369924450 0.00005
NM_178857.6(RP1L1):c.122G>A (p.Arg41Gln) rs536131729 0.00004
NM_178857.6(RP1L1):c.2469C>T (p.Ser823=) rs368842714 0.00004
NM_178857.6(RP1L1):c.4746G>A (p.Arg1582=) rs754155146 0.00004
NM_178857.6(RP1L1):c.905C>T (p.Pro302Leu) rs759951793 0.00004
NM_178857.6(RP1L1):c.967G>A (p.Val323Met) rs200724846 0.00004
NM_178857.6(RP1L1):c.1090C>G (p.Pro364Ala) rs372699223 0.00003
NM_178857.6(RP1L1):c.1587G>C (p.Glu529Asp) rs750105114 0.00003
NM_178857.6(RP1L1):c.371C>T (p.Pro124Leu) rs570222177 0.00003
NM_178857.6(RP1L1):c.1980C>T (p.Ala660=) rs748540099 0.00002
NM_178857.6(RP1L1):c.2814G>T (p.Glu938Asp) rs772171734 0.00002
NM_178857.6(RP1L1):c.4674C>T (p.Ala1558=) rs372744963 0.00002
NM_178857.6(RP1L1):c.5117C>T (p.Ala1706Val) rs749241014 0.00002
NM_178857.6(RP1L1):c.6043G>T (p.Glu2015Ter) rs184873506 0.00002
NM_178857.6(RP1L1):c.6307G>A (p.Ala2103Thr) rs762267136 0.00002
NM_178857.6(RP1L1):c.917G>C (p.Gly306Ala) rs761314438 0.00002
NM_178857.6(RP1L1):c.109A>G (p.Thr37Ala) rs755268691 0.00001
NM_178857.6(RP1L1):c.2157G>C (p.Leu719=) rs547631676 0.00001
NM_178857.6(RP1L1):c.2315C>T (p.Ser772Leu) rs759011494 0.00001
NM_178857.6(RP1L1):c.3484G>C (p.Asp1162His) rs557920637 0.00001
NM_178857.6(RP1L1):c.4795C>G (p.Leu1599Val) rs201524117 0.00001
NM_178857.6(RP1L1):c.6380C>T (p.Pro2127Leu) rs375714703 0.00001
NM_178857.6(RP1L1):c.1007C>T (p.Thr336Met) rs201195142
NM_178857.6(RP1L1):c.166C>A (p.Arg56Ser) rs150931842
NM_178857.6(RP1L1):c.2061G>C (p.Pro687=) rs200963001
NM_178857.6(RP1L1):c.3303C>T (p.Pro1101=) rs374612639
NM_178857.6(RP1L1):c.416dup (p.Gly140fs) rs201192645
NM_178857.6(RP1L1):c.4732_4734dup (p.Lys1578dup) rs142134028
NM_178857.6(RP1L1):c.477C>A (p.Asn159Lys) rs769690517
NM_178857.6(RP1L1):c.5821C>T (p.Gln1941Ter) rs201017122

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