ClinVar Miner

List of variants reported by Seelig Lab, University of Washington

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ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_015957.4(APIP):c.-70T>C rs2956112 0.78475
NM_001206641.3(COA6):c.213-4A>G rs73099933 0.09041
NM_015631.5(TCTN3):c.-47T>G rs41291572 0.03484
NM_000322.5(PRPH2):c.-11A>C rs114062933 0.03391
NM_000308.3(CTSA):c.-43G>T rs116893852 0.01437
NM_031448.6(C19orf12):c.-11+181T>C rs186970109 0.00552
NM_025150.5(TARS2):c.-22G>A rs201336268 0.00340
NM_005857.4(ZMPSTE24):c.-46G>A rs200527699 0.00158
NM_001540.5(HSPB1):c.-19C>T rs199602956 0.00149
NM_006767.4(LZTR1):c.-11G>A rs370616172 0.00097
NM_014297.5(ETHE1):c.184G>A (p.Ala62Thr) rs138958351 0.00019
NM_000100.3(CSTB):c.-42C>T rs776181852 0.00016
NM_004870.3(MPDU1):c.-36C>T rs370389790 0.00009
NM_000249.3(MLH1):c.-32C>G rs1016433173 0.00006
NM_032444.4(SLX4):c.-46G>A rs113023461 0.00006
NM_000744.7(CHRNA4):c.492C>T (p.Asp164=) rs200259564 0.00005
NM_001540.5(HSPB1):c.-4C>T rs372833436 0.00005
NM_000155.4(GALT):c.197C>T (p.Pro66Leu) rs111033656 0.00004
NM_000179.3(MSH6):c.-25C>T rs1064793670 0.00004
NM_006204.4(PDE6C):c.-21C>T rs374900090 0.00004
NM_006294.4(UQCRB):c.-39T>C rs373747569 0.00004
NM_030662.4(MAP2K2):c.-47A>G rs1057520422 0.00004
NM_182914.3(SYNE2):c.19088A>G (p.Asn6363Ser) rs199566869 0.00004
NM_176824.3(BBS7):c.-19G>C rs757523715 0.00002
NM_006231.4(POLE):c.-7C>T rs1064796567 0.00001
NM_018129.4(PNPO):c.-18C>T rs886053100 0.00001
NM_000016.6(ACADM):c.1A>G (p.Met1Val) rs1057516778
NM_000097.7(CPOX):c.-10G>A rs867711777
NM_000155.4(GALT):c.163G>T (p.Gly55Cys) rs111033654
NM_000155.4(GALT):c.197C>A (p.Pro66His) rs111033656
NM_000249.4(MLH1):c.-27C>T rs587779001
NM_000286.3(PEX12):c.-26G>A rs727504080
NM_000444.6(PHEX):c.-10G>T rs1057515841
NM_000543.5(SMPD1):c.952G>A (p.Val318Met) rs875989837
NM_000546.6(TP53):c.450_459del (p.Pro151fs) rs137852791
NM_000969.5(RPL5):c.-46C>A rs376208311
NM_002485.5(NBN):c.-40C>T rs730881843
NM_005359.6(SMAD4):c.-39T>A rs1057523754
NM_005902.4(SMAD3):c.275_281delinsC (p.Trp92_Trp94delinsSer) rs863223756
NM_005902.4(SMAD3):c.313del (p.Ala105fs) rs587776882
NM_014236.4(GNPAT):c.-47C>T rs201907247
NM_017547.4(FOXRED1):c.-35G>A rs778239850
NM_017775.3(TTC19):c.-42G>T rs769078093
NM_017849.4(TMEM127):c.-18C>T rs121908813
NM_170784.3(MKKS):c.-39A>C rs886056499

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