ClinVar Miner

List of variants reported as likely pathogenic by Department of Genetics,Sultan Qaboos University Hospital, Oman

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Total variants: 36
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HGVS dbSNP
NM_000018.4(ACADVL):c.1751+1G>A rs1567569262
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg) rs180177207
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000180.3(GUCY2D):c.1956+2T>A rs61749758
NM_000180.3:c.1391del rs1567958644
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln) rs111033215
NM_000263.4(NAGLU):c.1313T>G (p.Met438Arg) rs1567893399
NM_000294.3(PHKG2):c.469G>A (p.Glu157Lys) rs752961445
NM_000329.3(RPE65):c.1451-2A>C rs1557595199
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000359.3(TGM1):c.832G>A (p.Gly278Arg) rs121918725
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter) rs1184563885
NM_000396.4(CTSK):c.618+2T>G rs75481239
NM_000487.6(ARSA):c.369_374delinsAACCTTGGG (p.Gly124_Lys125delinsThrLeuGly) rs786200965
NM_000557.5(GDF5):c.1144del (p.Ala382fs) rs1568731526
NM_001039550.2(DNAJB2):c.446-2A>G rs758322672
NM_001065.3(TNFRSF1A):c.361C>T (p.Arg121Trp) rs104895276
NM_001065.3(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584
NM_001128177.2(THRB):c.803C>G (p.Ala268Gly) rs750905761
NM_001844.5(COL2A1):c.1122+1G>C rs1565686170
NM_001918.4(DBT):c.1281+1G>T rs1557943881
NM_001918.4(DBT):c.75_76del (p.Cys26fs) rs768832921
NM_002437.5(MPV17):c.375G>A (p.Arg125=) rs1064793178
NM_002693.2(POLG):c.3286C>T (p.Arg1096Cys) rs201732356
NM_004183.4(BEST1):c.86A>G (p.Tyr29Cys) rs1565382549
NM_005687.5(FARSB):c.853G>A (p.Glu285Lys) rs767956337
NM_006177.5(NRL):c.339C>G (p.Tyr113Ter) rs1566560531
NM_012463.4(ATP6V0A2):c.1929del (p.Gln645fs) rs80356756
NM_013328.4(PYCR2):c.355C>T (p.Arg119Cys) rs372781135
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873
NM_015426.5(POC1A):c.64G>T (p.Val22Phe) rs918352190
NM_024747.5(HPS6):c.17_18CT[1] (p.Leu7fs)
NM_032667.6(BSCL2):c.1043-2A>C rs1565142553
NM_058172.6(ANTXR2):c.867_945del (p.Glu289fs) rs1560998734
NM_152281.2(GORAB):c.-1_1delinsCT (p.Met1Leu) rs1557999318
NM_183050.4(BCKDHB):c.1145G>A (p.Cys382Tyr) rs1202365275

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