ClinVar Miner

List of variants reported as pathogenic for Choroideremia

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_000322.5(PRPH2):c.828+3A>T rs281865373 0.00001
NM_000390.4(CHM):c.1446del (p.Gly483fs) rs1244003380 0.00001
NM_000390.4(CHM):c.1609+2dup rs386833676 0.00001
NC_000023.11:g.86041956_86048370inv
NG_009874.2:g.93620_93621insLINE1invCTAATTGATCTTCT
NM_000390.2:c.315_702del
NM_000390.4(CHM):c.1053_1056dup (p.Asp353fs) rs1603262410
NM_000390.4(CHM):c.1066A>T (p.Lys356Ter) rs2147663153
NM_000390.4(CHM):c.1166+1G>C rs2147662906
NM_000390.4(CHM):c.1314C>G (p.Tyr438Ter) rs1603244690
NM_000390.4(CHM):c.1350-1G>A rs2148153587
NM_000390.4(CHM):c.1358_1359delinsGA (p.Ser453Ter) rs132630263
NM_000390.4(CHM):c.1359C>T (p.Ser453=) rs2148153518
NM_000390.4(CHM):c.1413+1G>T rs1926202120
NM_000390.4(CHM):c.1471G>T (p.Glu491Ter) rs132630265
NM_000390.4(CHM):c.1484C>A (p.Ser495Ter) rs132630264
NM_000390.4(CHM):c.1497C>A (p.Cys499Ter) rs132630267
NM_000390.4(CHM):c.1520A>G (p.His507Arg) rs397514603
NM_000390.4(CHM):c.1573C>T (p.Gln525Ter) rs1603236385
NM_000390.4(CHM):c.1584_1587del (p.Val529fs) rs587776746
NM_000390.4(CHM):c.1651_1655del (p.Tyr551fs) rs1924193863
NM_000390.4(CHM):c.1680del (p.Ser561fs) rs1556207100
NM_000390.4(CHM):c.187C>T (p.Gln63Ter) rs1931625420
NM_000390.4(CHM):c.22G>T (p.Glu8Ter) rs1603288832
NM_000390.4(CHM):c.232C>T (p.Gln78Ter) rs2147706580
NM_000390.4(CHM):c.280del (p.Thr94fs) rs1555958073
NM_000390.4(CHM):c.294_295del (p.Glu99fs)
NM_000390.4(CHM):c.29_30del (p.Asp10fs) rs1603288815
NM_000390.4(CHM):c.368_390dup (p.Thr131delinsLeuLeuTer) rs2147676302
NM_000390.4(CHM):c.386_399delinsG (p.Asn129fs) rs1930439753
NM_000390.4(CHM):c.419del (p.Pro140fs) rs1930438584
NM_000390.4(CHM):c.437T>G (p.Leu146Ter) rs2147676177
NM_000390.4(CHM):c.469C>T (p.Gln157Ter) rs1930431885
NM_000390.4(CHM):c.498_499dup (p.Leu167fs) rs1930428430
NM_000390.4(CHM):c.525_526del (p.Glu177fs) rs886041177
NM_000390.4(CHM):c.564_565del (p.Pro189fs) rs1603264449
NM_000390.4(CHM):c.652_655del (p.Ser218fs) rs1930413413
NM_000390.4(CHM):c.660del (p.Ile221fs) rs1603264410
NM_000390.4(CHM):c.703-2A>G rs2147667674
NM_000390.4(CHM):c.715C>T (p.Arg239Ter) rs776256380
NM_000390.4(CHM):c.751_752del (p.Asn250_Val251insTer)
NM_000390.4(CHM):c.799C>T (p.Arg267Ter) rs886041179
NM_000390.4(CHM):c.808C>T (p.Arg270Ter) rs527236048
NM_000390.4(CHM):c.819+1G>C rs1603263147
NM_000390.4(CHM):c.820-2A>G rs1556307713
NM_000390.4(CHM):c.846dup (p.Asn283Ter) rs2147665855
NM_000390.4(CHM):c.856C>T (p.Gln286Ter) rs2147665799
NM_000390.4(CHM):c.877C>T (p.Arg293Ter) rs132630266
NM_000390.4(CHM):c.941-1G>A
NM_000390.4(CHM):c.961del (p.Tyr321fs) rs2147663454
NM_000390.4(CHM):c.999_1000insT (p.Gln334fs)

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