ClinVar Miner

List of variants in gene LOC126860392, RP1 studied for amino acid metabolism disease

Included ClinVar conditions (409):
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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_006269.2(RP1):c.5071T>C (p.Ser1691Pro) rs414352 0.25064
NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr) rs446227 0.21425
NM_006269.2(RP1):c.5175A>G (p.Gln1725=) rs441800 0.20759
NM_006269.2(RP1):c.5701C>T (p.Leu1901Phe) rs113793810 0.00389
NM_006269.2(RP1):c.6064A>C (p.Lys2022Gln) rs184596875 0.00121
NM_006269.2(RP1):c.5377C>T (p.Pro1793Ser) rs143088423 0.00086
NM_006269.2(RP1):c.5296A>C (p.Asn1766His) rs147009600 0.00064
NM_006269.2(RP1):c.5624G>C (p.Gly1875Ala) rs150728667 0.00054
NM_006269.2(RP1):c.5673G>T (p.Leu1891Phe) rs139088785 0.00028
NM_006269.2(RP1):c.6055G>A (p.Gly2019Ser) rs137853908 0.00021
NM_006269.2(RP1):c.5805T>G (p.Phe1935Leu) rs140137224 0.00016
NM_006269.2(RP1):c.5257T>C (p.Leu1753=) rs199808222 0.00014
NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter) rs118031911 0.00008
NM_006269.2(RP1):c.4932A>G (p.Pro1644=) rs111445591 0.00006
NM_006269.2(RP1):c.5123C>T (p.Ala1708Val) rs373678545 0.00006
NM_006269.2(RP1):c.5335A>T (p.Asn1779Tyr) rs748293359 0.00006
NM_006269.2(RP1):c.5610C>G (p.Ser1870=) rs762475732 0.00004
NM_006269.2(RP1):c.5002A>G (p.Arg1668Gly) rs375004458 0.00003
NM_006269.2(RP1):c.5962dup (p.Ile1988fs) rs769512989 0.00002
NM_006269.2(RP1):c.6056G>A (p.Gly2019Asp) rs750005747 0.00002
NM_006269.2(RP1):c.5248G>T (p.Glu1750Ter) rs1444271998 0.00001
NM_006269.2(RP1):c.4897G>T (p.Glu1633Ter) rs982929068
NM_006269.2(RP1):c.4908C>A (p.Tyr1636Ter) rs200942439
NM_006269.2(RP1):c.4941dup (p.Pro1648fs)
NM_006269.2(RP1):c.5017del (p.Tyr1673fs) rs753090404
NM_006269.2(RP1):c.5074A>C (p.Met1692Leu) rs886062994
NM_006269.2(RP1):c.5105_5109del (p.Asp1702fs) rs1278053918
NM_006269.2(RP1):c.5561_5567del (p.Glu1854fs) rs1806185357
NM_006269.2(RP1):c.5564del (p.Lys1855fs) rs2129318266
NM_006269.2(RP1):c.5585G>T (p.Arg1862Ile) rs777277564
NM_006269.2(RP1):c.5873A>G (p.Tyr1958Cys) rs776604527
NM_006269.2(RP1):c.5883del (p.Thr1962fs) rs1554520068
NM_006269.2(RP1):c.5921del (p.Ala1974fs) rs1806199541
Single allele

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