ClinVar Miner

List of variants reported as not provided by Seelig Lab,University of Washington

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Total variants: 45
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HGVS dbSNP
NM_000016.5(ACADM):c.1A>G (p.Met1Val) rs1057516778
NM_000097.7(CPOX):c.-10G>A rs867711777
NM_000100.3(CSTB):c.-42C>T rs776181852
NM_000155.4(GALT):c.163G>T (p.Gly55Cys) rs111033654
NM_000155.4(GALT):c.197C>A (p.Pro66His) rs111033656
NM_000155.4(GALT):c.197C>T (p.Pro66Leu) rs111033656
NM_000179.2(MSH6):c.-25C>T rs1064793670
NM_000249.3(MLH1):c.-27C>T rs587779001
NM_000249.3(MLH1):c.-32C>G rs1016433173
NM_000286.3(PEX12):c.-26G>A rs727504080
NM_000308.3(CTSA):c.-43G>T rs116893852
NM_000322.5(PRPH2):c.-11A>C rs114062933
NM_000444.6(PHEX):c.-10G>T rs1057515841
NM_000543.5(SMPD1):c.952G>A (p.Val318Met) rs875989837
NM_000546.5(TP53):c.450_459del (p.Pro151fs) rs137852791
NM_000744.6(CHRNA4):c.492C>T (p.Asp164=) rs200259564
NM_000969.5(RPL5):c.-46C>A rs376208311
NM_001143973.1(TCTN3):c.-47T>G rs41291572
NM_001206641.3(COA6):c.213-4A>G rs73099933
NM_001256047.1(C19orf12):c.-11+619T>C rs186970109
NM_001330073.1(MPDU1):c.-36C>T rs370389790
NM_001540.5(HSPB1):c.-19C>T rs199602956
NM_001540.5(HSPB1):c.-4C>T rs372833436
NM_002485.4(NBN):c.-40C>T rs730881843
NM_005359.5(SMAD4):c.-39T>A rs1057523754
NM_005857.5(ZMPSTE24):c.-46G>A rs200527699
NM_005902.4(SMAD3):c.275_281delinsC (p.Trp92_Trp94delinsSer) rs863223756
NM_005902.4(SMAD3):c.313del (p.Ala105fs) rs587776882
NM_006204.4(PDE6C):c.-21C>T rs374900090
NM_006231.3(POLE):c.-7C>T rs1064796567
NM_006294.4(UQCRB):c.-39T>C rs373747569
NM_006767.4(LZTR1):c.-11G>A rs370616172
NM_014236.4(GNPAT):c.-47C>T rs201907247
NM_014297.5(ETHE1):c.184G>A (p.Ala62Thr) rs138958351
NM_015957.4(APIP):c.-70T>C rs2956112
NM_017547.4(FOXRED1):c.-35G>A rs778239850
NM_017775.4(TTC19):c.-42G>T rs769078093
NM_017849.3(TMEM127):c.-18C>T rs121908813
NM_018129.4(PNPO):c.-18C>T rs886053100
NM_025150.5(TARS2):c.-22G>A rs201336268
NM_030662.3(MAP2K2):c.-47A>G rs1057520422
NM_032444.4(SLX4):c.-46G>A rs113023461
NM_170784.2(MKKS):c.-39A>C rs886056499
NM_176824.3(BBS7):c.-19G>C rs757523715
NM_182914.2(SYNE2):c.19088A>G (p.Asn6363Ser) rs199566869

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