ClinVar Miner

List of variants in gene RP2 studied for amino acid metabolism disease

Included ClinVar conditions (409):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_006915.3(RP2):c.*828G>A rs4239962 0.99135
NM_006915.3(RP2):c.844C>T (p.Arg282Trp) rs1805147 0.01957
NM_006915.3(RP2):c.*2085T>C rs73478384 0.00737
NM_006915.3(RP2):c.*2163T>C rs35931067 0.00599
NM_006915.3(RP2):c.*958A>C rs190692640 0.00507
NM_006915.3(RP2):c.260C>T (p.Thr87Ile) rs147783915 0.00496
NM_006915.3(RP2):c.*435C>T rs147975002 0.00468
NM_006915.3(RP2):c.606T>C (p.Pro202=) rs144795993 0.00408
NM_006915.3(RP2):c.601A>G (p.Ile201Val) rs149503319 0.00307
NM_006915.3(RP2):c.*798T>C rs77536091 0.00129
NM_006915.3(RP2):c.*1926G>A rs782390676 0.00102
NM_006915.3(RP2):c.*1947C>G rs781995791 0.00074
NM_006915.3(RP2):c.*2156A>G rs141748740 0.00066
NM_006915.3(RP2):c.*504T>A rs782102892 0.00053
NM_006915.3(RP2):c.*904A>G rs144870840 0.00052
NM_006915.3(RP2):c.*746C>T rs782701065 0.00048
NM_006915.3(RP2):c.*1176G>A rs781850779 0.00023
NM_006915.3(RP2):c.1001C>A (p.Ser334Tyr) rs139796627 0.00021
NM_006915.2(RP2):c.-97C>T rs975776959 0.00015
NM_006915.3(RP2):c.814A>G (p.Met272Val) rs143606776 0.00011
NM_006915.3(RP2):c.751A>G (p.Arg251Gly) rs190443020 0.00009
NM_006915.3(RP2):c.613G>A (p.Glu205Lys) rs138731990 0.00008
NM_006915.3(RP2):c.650A>G (p.Asn217Ser) rs781878275 0.00007
NM_006915.3(RP2):c.*1458G>A rs1057515895 0.00005
NM_006915.3(RP2):c.286G>A (p.Val96Met) rs782229330 0.00004
NM_006915.2(RP2):c.-70A>G rs1057515891 0.00003
NM_006915.3(RP2):c.*1081C>T rs782529175 0.00003
NM_006915.3(RP2):c.506A>G (p.Asn169Ser) rs138024658 0.00002
NM_006915.3(RP2):c.*141T>A rs1475574241 0.00001
NM_006915.3(RP2):c.420C>T (p.Ser140=) rs781830738 0.00001
NM_006915.3(RP2):c.496A>G (p.Ile166Val) rs782510902 0.00001
NM_006915.3(RP2):c.514A>G (p.Ser172Gly) rs782217142 0.00001
NM_006915.3(RP2):c.761T>C (p.Ile254Thr) rs1556318773 0.00001
NM_006915.3(RP2):c.845G>A (p.Arg282Gln) rs1556319897 0.00001
NM_006915.3(RP2):c.*1098G>A rs181617714
NM_006915.3(RP2):c.*1447T>C rs1057515894
NM_006915.3(RP2):c.*1696ATT[9] rs782229405
NM_006915.3(RP2):c.*1696_*1697insGTATTA rs1556328727
NM_006915.3(RP2):c.*1743T>C rs954710371
NM_006915.3(RP2):c.*1908G>A rs782216739
NM_006915.3(RP2):c.*243_*246del rs782684761
NM_006915.3(RP2):c.*33C>G rs201374021
NM_006915.3(RP2):c.*741C>T rs1925452093
NM_006915.3(RP2):c.*808del rs781852469
NM_006915.3(RP2):c.102+1G>T rs1602342663
NM_006915.3(RP2):c.102G>A (p.Lys34=) rs1556313552
NM_006915.3(RP2):c.103-2A>G rs2147081133
NM_006915.3(RP2):c.158del (p.Leu53fs) rs1602347637
NM_006915.3(RP2):c.201_202del (p.Cys67_Glu68delinsTer) rs1924897691
NM_006915.3(RP2):c.225del (p.Phe75fs)
NM_006915.3(RP2):c.276_277delinsA (p.Phe92fs)
NM_006915.3(RP2):c.299dup (p.Phe101fs) rs1924900389
NM_006915.3(RP2):c.314G>A (p.Cys105Tyr) rs1569531630
NM_006915.3(RP2):c.328T>C (p.Cys110Arg) rs1602347741
NM_006915.3(RP2):c.333_334del (p.Leu112fs) rs2147081300
NM_006915.3(RP2):c.338C>A (p.Ala113Asp) rs1556318627
NM_006915.3(RP2):c.352C>G (p.Arg118Gly) rs1556318633
NM_006915.3(RP2):c.352C>T (p.Arg118Cys) rs1556318633
NM_006915.3(RP2):c.353G>A (p.Arg118His) rs28933687
NM_006915.3(RP2):c.353G>T (p.Arg118Leu) rs28933687
NM_006915.3(RP2):c.358C>T (p.Arg120Ter) rs104894927
NM_006915.3(RP2):c.364del (p.Cys122fs) rs1602347786
NM_006915.3(RP2):c.365G>A (p.Cys122Tyr) rs1556318642
NM_006915.3(RP2):c.390T>A (p.Cys130Ter) rs1602347792
NM_006915.3(RP2):c.409_411del (p.Ile137del) rs1924904597
NM_006915.3(RP2):c.434T>C (p.Phe145Ser) rs1000426939
NM_006915.3(RP2):c.450G>A (p.Trp150Ter) rs1924906177
NM_006915.3(RP2):c.453C>G (p.Tyr151Ter) rs104894926
NM_006915.3(RP2):c.453del (p.Tyr152Ilefs*4) rs2147081376
NM_006915.3(RP2):c.465_468dup (p.Phe157fs) rs2147081378
NM_006915.3(RP2):c.524A>C (p.His175Pro) rs2147081422
NM_006915.3(RP2):c.529_533del (p.Phe177fs) rs1924907742
NM_006915.3(RP2):c.530_531del (p.Phe177fs) rs1602347851
NM_006915.3(RP2):c.623_624dup (p.Ala209fs)
NM_006915.3(RP2):c.758del (p.Leu253fs) rs1602347992
NM_006915.3(RP2):c.768+1G>A rs1924915809
NM_006915.3(RP2):c.768G>C (p.Glu256Asp) rs1227276668
NM_006915.3(RP2):c.76C>T (p.Gln26Ter) rs104894925
NM_006915.3(RP2):c.826del (p.Asp276fs) rs1602349705
NM_006915.3(RP2):c.883+1del
NM_006915.3(RP2):c.884-14G>A rs1602354996
NM_006915.3(RP2):c.884-9T>A rs1428719874
NM_006915.3(RP2):c.932del (p.Cys311fs) rs1602355025
NM_006915.3(RP2):c.969+1dup rs1925391988
NM_006915.3(RP2):c.969+2T>C rs1925392056
NM_006915.3(RP2):c.969+3A>C rs2147089334

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