ClinVar Miner

List of variants in gene RP1 reported by Ambry Genetics

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Gene type:
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Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_006269.2(RP1):c.1187G>A (p.Arg396Gln) rs141279458 0.00138
NM_006269.2(RP1):c.6167G>A (p.Gly2056Asp) rs35327842 0.00135
NM_006269.2(RP1):c.4030T>C (p.Phe1344Leu) rs146256526 0.00113
NM_006269.2(RP1):c.2413A>G (p.Asn805Asp) rs145839872 0.00031
NM_006269.2(RP1):c.4456G>A (p.Gly1486Arg) rs143193537 0.00026
NM_006269.2(RP1):c.1943A>C (p.Glu648Ala) rs371614106 0.00013
NM_006269.2(RP1):c.172C>T (p.Arg58Cys) rs553910154 0.00011
NM_006269.2(RP1):c.2455T>G (p.Leu819Val) rs367562684 0.00011
NM_006269.2(RP1):c.2016G>T (p.Lys672Asn) rs200252967 0.00010
NM_006269.2(RP1):c.3532G>T (p.Asp1178Tyr) rs147384119 0.00007
NM_006269.2(RP1):c.2757G>C (p.Trp919Cys) rs746396730 0.00006
NM_006269.2(RP1):c.3428A>G (p.Asn1143Ser) rs748097421 0.00006
NM_006269.2(RP1):c.4856A>G (p.Gln1619Arg) rs113911625 0.00006
NM_006269.2(RP1):c.1980T>A (p.Asn660Lys) rs886062990 0.00005
NM_006269.2(RP1):c.4831C>A (p.Pro1611Thr) rs201519839 0.00005
NM_006269.2(RP1):c.1500G>A (p.Met500Ile) rs995188028 0.00004
NM_006269.2(RP1):c.2339G>T (p.Arg780Ile) rs762382791 0.00004
NM_006269.2(RP1):c.3155T>C (p.Val1052Ala) rs546212290 0.00004
NM_006269.2(RP1):c.4699A>G (p.Met1567Val) rs374421129 0.00004
NM_006269.2(RP1):c.6100A>G (p.Met2034Val) rs147632759 0.00004
NM_006269.2(RP1):c.2750A>G (p.Gln917Arg) rs1333399850 0.00003
NM_006269.2(RP1):c.3413T>C (p.Leu1138Pro) rs754799075 0.00003
NM_006269.2(RP1):c.3502A>G (p.Lys1168Glu) rs142787091 0.00003
NM_006269.2(RP1):c.3667T>G (p.Cys1223Gly) rs1057179569 0.00003
NM_006269.2(RP1):c.2825C>T (p.Thr942Met) rs112323560 0.00002
NM_006269.2(RP1):c.3100C>G (p.His1034Asp) rs746848660 0.00002
NM_006269.2(RP1):c.4025T>C (p.Ile1342Thr) rs201683491 0.00002
NM_006269.2(RP1):c.403G>A (p.Ala135Thr) rs755833719 0.00002
NM_006269.2(RP1):c.6137A>G (p.Asn2046Ser) rs150148595 0.00002
NM_006269.2(RP1):c.1037C>A (p.Thr346Asn) rs1167725394 0.00001
NM_006269.2(RP1):c.1333C>T (p.Arg445Cys) rs575855591 0.00001
NM_006269.2(RP1):c.137C>G (p.Pro46Arg) rs775031968 0.00001
NM_006269.2(RP1):c.2090A>T (p.Asn697Ile) rs745553501 0.00001
NM_006269.2(RP1):c.3251C>T (p.Pro1084Leu) rs1431000310 0.00001
NM_006269.2(RP1):c.3694A>G (p.Ile1232Val) rs368788385 0.00001
NM_006269.2(RP1):c.4676T>C (p.Met1559Thr) rs556815489 0.00001
NM_006269.2(RP1):c.4697C>T (p.Thr1566Ile) rs775203481 0.00001
NM_006269.2(RP1):c.4853C>T (p.Thr1618Ile) rs375156216 0.00001
NM_006269.2(RP1):c.809G>C (p.Ser270Thr) rs746650875 0.00001
NM_006269.2(RP1):c.103G>T (p.Ala35Ser)
NM_006269.2(RP1):c.104C>T (p.Ala35Val) rs1805847793
NM_006269.2(RP1):c.1078A>C (p.Asn360His)
NM_006269.2(RP1):c.1213G>T (p.Ala405Ser)
NM_006269.2(RP1):c.1240G>T (p.Asp414Tyr)
NM_006269.2(RP1):c.1243C>G (p.Gln415Glu)
NM_006269.2(RP1):c.1313C>T (p.Thr438Ile) rs1451687014
NM_006269.2(RP1):c.1489G>A (p.Glu497Lys)
NM_006269.2(RP1):c.173G>A (p.Arg58His)
NM_006269.2(RP1):c.1978A>C (p.Asn660His)
NM_006269.2(RP1):c.2017A>G (p.Lys673Glu) rs766341403
NM_006269.2(RP1):c.206A>G (p.Asn69Ser)
NM_006269.2(RP1):c.2207C>T (p.Thr736Ile)
NM_006269.2(RP1):c.2209G>C (p.Val737Leu)
NM_006269.2(RP1):c.2338A>G (p.Arg780Gly)
NM_006269.2(RP1):c.23G>T (p.Gly8Val)
NM_006269.2(RP1):c.2432A>G (p.Lys811Arg) rs374965881
NM_006269.2(RP1):c.2624A>G (p.Asp875Gly)
NM_006269.2(RP1):c.2635G>C (p.Ala879Pro)
NM_006269.2(RP1):c.2660A>T (p.His887Leu)
NM_006269.2(RP1):c.2666C>T (p.Thr889Ile)
NM_006269.2(RP1):c.2749C>T (p.Gln917Ter) rs878853326
NM_006269.2(RP1):c.2792C>G (p.Pro931Arg)
NM_006269.2(RP1):c.3221T>C (p.Ile1074Thr)
NM_006269.2(RP1):c.3325C>T (p.Pro1109Ser)
NM_006269.2(RP1):c.3605A>T (p.Asp1202Val) rs1243903242
NM_006269.2(RP1):c.3631A>G (p.Asn1211Asp)
NM_006269.2(RP1):c.3724A>G (p.Ser1242Gly)
NM_006269.2(RP1):c.3788C>T (p.Thr1263Ile)
NM_006269.2(RP1):c.3946G>A (p.Ala1316Thr)
NM_006269.2(RP1):c.3946G>T (p.Ala1316Ser)
NM_006269.2(RP1):c.3947C>T (p.Ala1316Val)
NM_006269.2(RP1):c.4013T>A (p.Val1338Asp) rs746414248
NM_006269.2(RP1):c.4097A>G (p.Asp1366Gly)
NM_006269.2(RP1):c.4107G>C (p.Gln1369His)
NM_006269.2(RP1):c.4226A>T (p.Glu1409Val)
NM_006269.2(RP1):c.4268G>T (p.Cys1423Phe)
NM_006269.2(RP1):c.434C>T (p.Ala145Val)
NM_006269.2(RP1):c.4544T>A (p.Met1515Lys)
NM_006269.2(RP1):c.457C>G (p.Pro153Ala)
NM_006269.2(RP1):c.458dup (p.Arg154fs) rs781249059
NM_006269.2(RP1):c.4633A>C (p.Lys1545Gln) rs767994258
NM_006269.2(RP1):c.4670C>T (p.Thr1557Ile)
NM_006269.2(RP1):c.4674G>T (p.Lys1558Asn)
NM_006269.2(RP1):c.470T>C (p.Val157Ala)
NM_006269.2(RP1):c.4748T>A (p.Ile1583Asn)
NM_006269.2(RP1):c.4766C>T (p.Ser1589Phe) rs199756880
NM_006269.2(RP1):c.6182T>C (p.Ile2061Thr)
NM_006269.2(RP1):c.6275A>G (p.Asn2092Ser)
NM_006269.2(RP1):c.629A>G (p.Gln210Arg)
NM_006269.2(RP1):c.6377G>T (p.Cys2126Phe)
NM_006269.2(RP1):c.758A>C (p.Lys253Thr)

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