ClinVar Miner

List of variants reported as likely pathogenic for inborn disorder of amino acid metabolism by Blueprint Genetics

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.2041_2042del (p.Lys681fs) rs1569237670 0.00001
NM_001034853.2(RPGR):c.122C>A (p.Ser41Ter) rs2067985937
NM_001034853.2(RPGR):c.1711C>T (p.Gln571Ter) rs2067216516
NM_001034853.2(RPGR):c.173T>A (p.Met58Lys) rs2067976284
NM_001034853.2(RPGR):c.1787C>A (p.Ser596Ter) rs2067202860
NM_001034853.2(RPGR):c.2027_2078dup (p.Glu693_Lys694insGlyGlyGluArgGlnGlyTer) rs2067193857
NM_001034853.2(RPGR):c.2059G>T (p.Glu687Ter) rs2067194648
NM_001034853.2(RPGR):c.2098_2101del (p.Glu700fs) rs2067193155
NM_001034853.2(RPGR):c.2106G>A (p.Trp702Ter) rs2067193056
NM_001034853.2(RPGR):c.2118_2190dup (p.Gly731fs) rs2067190364
NM_001034853.2(RPGR):c.2125G>T (p.Glu709Ter) rs1305342570
NM_001034853.2(RPGR):c.2138del (p.Lys713fs) rs2067191635
NM_001034853.2(RPGR):c.2158C>T (p.Gln720Ter) rs2067191154
NM_001034853.2(RPGR):c.2168_2171del (p.Arg723fs) rs2067190922
NM_001034853.2(RPGR):c.2234_2237del (p.Arg745fs) rs1555961852
NM_001034853.2(RPGR):c.2251A>T (p.Lys751Ter) rs2067188111
NM_001034853.2(RPGR):c.2293_2297del (p.Glu765fs) rs2067186762
NM_001034853.2(RPGR):c.2327_2354del (p.Lys776fs) rs2067184831
NM_001034853.2(RPGR):c.2362_2366del (p.Glu788fs) rs2067184362
NM_001034853.2(RPGR):c.2383G>T (p.Glu795Ter) rs2067183876
NM_001034853.2(RPGR):c.2409del (p.Arg804fs) rs2067182990
NM_001034853.2(RPGR):c.2419G>T (p.Glu807Ter) rs2067182354
NM_001034853.2(RPGR):c.2425G>T (p.Glu809Ter) rs1168146969
NM_001034853.2(RPGR):c.2447del (p.Gly816fs) rs1854473658
NM_001034853.2(RPGR):c.2488G>T (p.Glu830Ter) rs1601922510
NM_001034853.2(RPGR):c.2501_2522del (p.Glu834fs) rs2067176160
NM_001034853.2(RPGR):c.2526_2527del (p.Glu843fs) rs2067175855
NM_001034853.2(RPGR):c.2568dup (p.Lys857fs) rs2067172824
NM_001034853.2(RPGR):c.2587del (p.Glu863fs) rs2067170858
NM_001034853.2(RPGR):c.2627_2648dup (p.Glu884fs) rs2067164990
NM_001034853.2(RPGR):c.2731G>T (p.Glu911Ter) rs2067159456
NM_001034853.2(RPGR):c.2764dup (p.Glu922fs) rs2067157388
NM_001034853.2(RPGR):c.2839del (p.Glu947fs) rs1555961509
NM_001034853.2(RPGR):c.2865G>A (p.Trp955Ter) rs2067146202
NM_001034853.2(RPGR):c.2898_2899del (p.Glu967fs) rs1569235999
NM_001034853.2(RPGR):c.2938_2959dup (p.Glu987fs) rs2067136009
NM_001034853.2(RPGR):c.2971del (p.Glu991fs) rs2067134254
NM_001034853.2(RPGR):c.3104_3105del (p.Glu1035fs) rs1601917999
NM_001034853.2(RPGR):c.3160G>T (p.Glu1054Ter) rs2067118339
NM_001034853.2(RPGR):c.3255del (p.Glu1084_Tyr1085insTer) rs2067115815
NM_001034853.2(RPGR):c.3300_3301del (p.His1100fs) rs2067114709
NM_001034853.2(RPGR):c.592G>A (p.Gly198Arg) rs1601972255
NM_001034853.2(RPGR):c.619+2T>A rs2067844613
NM_001034853.2(RPGR):c.8del (p.Glu3fs) rs2068070979
NM_001034853.2(RPGR):c.904T>C (p.Cys302Arg) rs62640589
NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val) rs1599294284
NM_004974.4(KCNA2):c.298C>T (p.Arg100Ter) rs1649509389
NM_005629.3:c.1488_1899del
NM_006915.3(RP2):c.768G>C (p.Glu256Asp) rs1227276668

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