Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Pathways
Variants search result for All species
(View Results for all Objects and Ontologies)


139 records found for search term Snrpb
Refine Term:
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
9850446CV181541single nucleotide variantNM_003091.4(SNRPB):c.-72C>ACerebro-costo-mandibular syndrome [RCV000162253]pathogenic2024707622470762Human1name
405236197CV3040935single nucleotide variantNM_003091.4(SNRPB):c.4-7C>Tnot provided [RCV003712303]likely benign2024677652467765Humanname
150445494CV1248312single nucleotide variantNM_003091.4(SNRPB):c.4-68T>Gnot provided [RCV001667018]benign2024678262467826Humanname
151827980CV1395821single nucleotide variantNM_003091.4(SNRPB):c.*156C>Tnot provided [RCV002050436]uncertain significance2024617732461773Humanname
152175527CV1526861single nucleotide variantNM_003091.4(SNRPB):c.*149G>Anot provided [RCV002163662]benign2024617802461780Humanname
156416784CV1898145single nucleotide variantNM_003091.4(SNRPB):c.*148C>TInborn genetic diseases [RCV003269468]|not provided [RCV002610359]likely benign|uncertain significance2024617812461781Human1name
156179264CV1953348single nucleotide variantNM_003091.4(SNRPB):c.*144C>Tnot provided [RCV002574063]uncertain significance2024617852461785Humanname
155901364CV2043597single nucleotide variantNM_003091.4(SNRPB):c.*162C>Tnot provided [RCV002770990]uncertain significance2024617672461767Humanname
155968399CV2082915duplicationNM_003091.4(SNRPB):c.*151dupnot provided [RCV002881367]uncertain significance2024617772461778Humanname
156095529CV2167335single nucleotide variantNM_003091.4(SNRPB):c.*148C>Gnot provided [RCV003038376]uncertain significance2024617812461781Humanname
156093341CV2256745single nucleotide variantNM_003091.4(SNRPB):c.*144C>AInborn genetic diseases [RCV002798651]|not provided [RCV003777781]uncertain significance2024617852461785Human1name
405237627CV3165344single nucleotide variantNM_003091.4(SNRPB):c.3+18T>Cnot provided [RCV003866546]likely benign2024706702470670Humanname
408384612CV3504411single nucleotide variantNM_003091.4(SNRPB):c.*137G>TSNRPB-related disorder [RCV004731954]uncertain significance2024617922461792Humanname , trait , alternate_id
597947181CV3758942single nucleotide variantNM_003091.4(SNRPB):c.*141C>Tnot provided [RCV005078738]uncertain significance2024617882461788Humanname
597839954CV3825231single nucleotide variantNM_003091.4(SNRPB):c.3+15G>Cnot provided [RCV005171914]likely benign2024706732470673Humanname
13474153CV446211single nucleotide variantNM_003091.4(SNRPB):c.*139C>Tnot provided [RCV005056127]|not specified [RCV000519566]uncertain significance2024617902461790Humanname
15197377CV728577single nucleotide variantNM_003091.4(SNRPB):c.*157G>Anot provided [RCV000890040]likely benign2024617722461772Humanname
150476735CV1263690single nucleotide variantNM_003091.4(SNRPB):c.4-183C>Anot provided [RCV001685213]benign2024679412467941Humanname
152041672CV1537782single nucleotide variantNM_003091.4(SNRPB):c.155+7A>Cnot provided [RCV002165771]likely benign2024676002467600Humanname
156064639CV1925839single nucleotide variantNM_003091.4(SNRPB):c.559+8G>Tnot provided [RCV002621060]likely benign2024630812463081Humanname
156447315CV1944961single nucleotide variantNM_003091.4(SNRPB):c.560-4G>Anot provided [RCV003118842]benign2024627652462765Humanname
156446537CV1947883single nucleotide variantNM_003091.4(SNRPB):c.560-3C>Tnot provided [RCV003118046]uncertain significance2024627642462764Humanname
405193488CV2975093single nucleotide variantNM_003091.4(SNRPB):c.421-6T>Cnot provided [RCV003677423]likely benign2024632332463233Humanname
405063672CV3020681single nucleotide variantNM_003091.4(SNRPB):c.685+4A>Gnot provided [RCV003697873]uncertain significance2024626322462632Humanname
405854896CV3395022duplicationNM_003091.4(SNRPB):c.267+4dupCerebro-costo-mandibular syndrome [RCV004555164]likely pathogenic2024657032465704Human1name
407426712CV3411512single nucleotide variantNM_003091.4(SNRPB):c.267+5G>Anot provided [RCV004590690]uncertain significance2024657032465703Humanname
40814719CV969759single nucleotide variantNM_003091.4(SNRPB):c.560-1G>TIsolated Pierre-Robin syndrome [RCV001261285]likely pathogenic2024627622462762Human4name
150512158CV1228438single nucleotide variantNM_003091.4(SNRPB):c.560-34C>Tnot provided [RCV001637570]benign2024627952462795Humanname
152033468CV1572837single nucleotide variantNM_003091.4(SNRPB):c.420+20G>Tnot provided [RCV002187094]likely benign2024637272463727Humanname
152032267CV1629360single nucleotide variantNM_003091.4(SNRPB):c.560-19T>Cnot provided [RCV002106329]likely benign2024627802462780Humanname
156129298CV1966136single nucleotide variantNM_003091.4(SNRPB):c.155+16T>Gnot provided [RCV002593433]likely benign2024675912467591Humanname
155913305CV2065916single nucleotide variantNM_003091.4(SNRPB):c.267+10A>Cnot provided [RCV002837871]likely benign2024656982465698Humanname
156189741CV2066328single nucleotide variantNM_003091.4(SNRPB):c.685+17G>Anot provided [RCV002828572]likely benign2024626192462619Humanname
156308733CV2076126single nucleotide variantNM_003091.4(SNRPB):c.155+11G>Tnot provided [RCV002857538]likely benign2024675962467596Humanname
405011786CV3128134single nucleotide variantNM_003091.4(SNRPB):c.420+13G>Tnot provided [RCV003829014]likely benign2024637342463734Humanname
405213599CV3128278single nucleotide variantNM_003091.4(SNRPB):c.155+13C>Tnot provided [RCV003823702]likely benign2024675942467594Humanname
404995029CV3132632single nucleotide variantNM_003091.4(SNRPB):c.559+10C>Gnot provided [RCV003827571]likely benign2024630792463079Humanname
405144472CV3155787duplicationNM_003091.4(SNRPB):c.156-15dupnot provided [RCV003855829]likely benign2024658332465834Humanname
405085881CV3167354single nucleotide variantNM_003091.4(SNRPB):c.559+12A>Gnot provided [RCV003851935]likely benign2024630772463077Humanname
597936984CV3807751single nucleotide variantNM_003091.4(SNRPB):c.560-18G>Cnot provided [RCV005158130]likely benign2024627792462779Humanname
597933950CV3810827single nucleotide variantNM_003091.4(SNRPB):c.268-13G>Anot provided [RCV005157536]likely benign2024639122463912Humanname
150477338CV1240016single nucleotide variantNM_003091.4(SNRPB):c.685+166C>Tnot provided [RCV001652194]benign2024624702462470Humanname
150472024CV1259228single nucleotide variantNM_003091.4(SNRPB):c.268-199G>Anot provided [RCV001684474]benign2024640982464098Humanname
150465387CV1277231single nucleotide variantNM_003091.4(SNRPB):c.155+245C>Tnot provided [RCV001710525]benign2024673622467362Humanname
9850442CV181537single nucleotide variantNM_003091.4(SNRPB):c.155+301G>CCerebro-costo-mandibular syndrome [RCV000162249]|SNRPB-related disorder [RCV003416031]|not provided [RCV004721279]pathogenic|likely pathogenic2024673062467306Human1name , trait , alternate_id
9850443CV181538single nucleotide variantNM_003091.4(SNRPB):c.155+302G>CCerebro-costo-mandibular syndrome [RCV000162250]pathogenic2024673052467305Human1name
9850444CV181539single nucleotide variantNM_003091.4(SNRPB):c.155+302G>TCerebro-costo-mandibular syndrome [RCV000162251]pathogenic|not provided2024673052467305Human1name
9850445CV181540single nucleotide variantNM_003091.4(SNRPB):c.155+406C>ACerebro-costo-mandibular syndrome [RCV000162252]pathogenic2024672012467201Human1name
156140934CV2177879deletionNM_003091.4(SNRPB):c.4-11_4-5delnot provided [RCV003040033]likely benign2024677632467769Humanname
150500815CV1213230deletionNM_003091.4(SNRPB):c.4-171_4-170delnot provided [RCV001594642]benign2024679282467929Humanname
152106181CV1591628duplicationNM_003091.4(SNRPB):c.267+2_267+6dupnot provided [RCV002214841]likely benign2024657012465702Humanname
151792437CV1351097single nucleotide variantNM_003091.4(SNRPB):c.5C>T (p.Thr2Met)not provided [RCV001990204]uncertain significance2024677572467757Humanname
152067145CV1579140single nucleotide variantNM_003091.4(SNRPB):c.54G>A (p.Arg18=)not provided [RCV002074604]likely benign2024677082467708Humanname
156435762CV1937124single nucleotide variantNM_003091.4(SNRPB):c.52A>C (p.Arg18=)not provided [RCV003104993]likely benign2024677102467710Humanname
156407726CV1957589microsatelliteNM_003091.4(SNRPB):c.421-15_421-13delnot provided [RCV002586312]benign2024632402463242Humanname
156073913CV1959587microsatelliteNM_003091.4(SNRPB):c.421-19_421-16delnot provided [RCV002569692]likely benign2024632432463246Humanname
156110712CV2161281deletionNM_003091.4(SNRPB):c.421-20_421-19delnot provided [RCV003038932]likely benign2024632462463247Humanname
405260524CV3204115single nucleotide variantNM_003091.4(SNRPB):c.30G>A (p.Leu10=)SNRPB-related disorder [RCV003943985]|not provided [RCV004703351]likely benign2024677322467732Human1name , trait , alternate_id
151720195CV1491475single nucleotide variantNM_003091.4(SNRPB):c.214C>T (p.Leu72=)not provided [RCV002003548]likely benign2024657612465761Humanname
152134306CV1613358single nucleotide variantNM_003091.4(SNRPB):c.252A>G (p.Gly84=)not provided [RCV002155944]likely benign2024657232465723Humanname
156099146CV1920619single nucleotide variantNM_003091.4(SNRPB):c.267T>C (p.Asp89=)not provided [RCV002592209]uncertain significance2024657082465708Humanname
156386623CV1979803single nucleotide variantNM_003091.4(SNRPB):c.126C>G (p.Leu42=)not provided [RCV002604335]likely benign2024676362467636Humanname
156102476CV1991995single nucleotide variantNM_003091.4(SNRPB):c.108G>A (p.Lys36=)not provided [RCV002622266]likely benign2024676542467654Humanname
405200909CV2877062single nucleotide variantNM_003091.4(SNRPB):c.171A>G (p.Lys57=)not provided [RCV003551271]likely benign2024658042465804Humanname
405241212CV3061060single nucleotide variantNM_003091.4(SNRPB):c.193C>A (p.Arg65=)not provided [RCV003737300]likely benign2024657822465782Humanname
404980083CV3183305single nucleotide variantNM_003091.4(SNRPB):c.123C>T (p.Ile41=)not provided [RCV003880328]likely benign2024676392467639Humanname
597891425CV3749379single nucleotide variantNM_003091.4(SNRPB):c.23A>G (p.Lys8Arg)not provided [RCV005071163]uncertain significance2024677392467739Humanname
597916236CV3814668single nucleotide variantNM_003091.4(SNRPB):c.282A>G (p.Arg94=)not provided [RCV005154983]likely benign2024638852463885Humanname
15201849CV705414single nucleotide variantNM_003091.4(SNRPB):c.252A>T (p.Gly84=)SNRPB-related disorder [RCV003903308]|not provided [RCV000957746]benign2024657232465723Human1name , trait , alternate_id
151856744CV1410299single nucleotide variantNM_003091.4(SNRPB):c.51G>A (p.Met17Ile)not provided [RCV001996630]uncertain significance2024677112467711Humanname
151853445CV1459209single nucleotide variantNM_003091.4(SNRPB):c.654G>A (p.Pro218=)not provided [RCV002016892]likely benign|uncertain significance2024626672462667Humanname
152073774CV1633390single nucleotide variantNM_003091.4(SNRPB):c.486C>T (p.Ala162=)not provided [RCV002129942]likely benign2024631622463162Humanname
156369975CV2007655single nucleotide variantNM_003091.4(SNRPB):c.423G>A (p.Val141=)not provided [RCV002676827]likely benign2024632252463225Humanname
156096028CV2010631single nucleotide variantNM_003091.4(SNRPB):c.498C>A (p.Thr166=)not provided [RCV002695121]likely benign2024631502463150Humanname
155913954CV2021883single nucleotide variantNM_003091.4(SNRPB):c.363C>A (p.Pro121=)not provided [RCV002727007]likely benign2024638042463804Humanname
156245136CV2149064single nucleotide variantNM_003091.4(SNRPB):c.570C>T (p.Gly190=)not provided [RCV003008242]likely benign2024627512462751Humanname
156332066CV2181150single nucleotide variantNM_003091.4(SNRPB):c.468T>C (p.Ala156=)not provided [RCV003047278]likely benign2024631802463180Humanname
156344288CV2186184single nucleotide variantNM_003091.4(SNRPB):c.549A>G (p.Ala183=)not provided [RCV003047925]likely benign2024630992463099Humanname
329847400CV2524236single nucleotide variantNM_003091.4(SNRPB):c.73C>T (p.Arg25Trp)not provided [RCV003227128]likely pathogenic2024676892467689Humanname
402475631CV2916777single nucleotide variantNM_003091.4(SNRPB):c.651T>C (p.Pro217=)not provided [RCV003571376]likely benign2024626702462670Humanname
405252716CV3047437single nucleotide variantNM_003091.4(SNRPB):c.303C>T (p.Ala101=)not provided [RCV003722303]likely benign2024638642463864Humanname
405245471CV3054989single nucleotide variantNM_003091.4(SNRPB):c.76A>G (p.Ile26Val)not provided [RCV003720226]uncertain significance2024676862467686Humanname
405237040CV3076577single nucleotide variantNM_003091.4(SNRPB):c.405C>T (p.Gly135=)not provided [RCV003735987]likely benign2024637622463762Humanname
405103459CV3116261single nucleotide variantNM_003091.4(SNRPB):c.456C>T (p.Ala152=)not provided [RCV003811977]likely benign2024631922463192Humanname
597964819CV3751019single nucleotide variantNM_003091.4(SNRPB):c.447T>C (p.Thr149=)not provided [RCV005082581]likely benign2024632012463201Humanname
597891104CV3784945single nucleotide variantNM_003091.4(SNRPB):c.606A>T (p.Pro202=)not provided [RCV005125724]likely benign2024627152462715Humanname
597956537CV3792443single nucleotide variantNM_003091.4(SNRPB):c.471C>T (p.Ala157=)not provided [RCV005137330]likely benign2024631772463177Humanname
597967129CV3855732single nucleotide variantNM_003091.4(SNRPB):c.513C>T (p.Gly171=)not provided [RCV005194712]likely benign2024631352463135Humanname
598171428CV3911598single nucleotide variantNM_003091.4(SNRPB):c.47G>A (p.Arg16Lys)Inborn genetic diseases [RCV005284839]uncertain significance2024677152467715Human1name
15163161CV705413single nucleotide variantNM_003091.4(SNRPB):c.612G>A (p.Gly204=)SNRPB-related disorder [RCV003933259]|not provided [RCV000948017]benign2024627092462709Human1name , trait , alternate_id
15153658CV728578single nucleotide variantNM_003091.4(SNRPB):c.318C>T (p.Ile106=)SNRPB-related disorder [RCV003948296]|not provided [RCV000880055]likely benign2024638492463849Human1name , trait , alternate_id
15167795CV757408single nucleotide variantNM_003091.4(SNRPB):c.411A>C (p.Pro137=)not provided [RCV000927162]likely benign2024637562463756Humanname
15123096CV773024single nucleotide variantNM_003091.4(SNRPB):c.348T>C (p.Ala116=)not provided [RCV000940793]likely benign2024638192463819Humanname
151725396CV1433248single nucleotide variantNM_003091.4(SNRPB):c.286C>A (p.Pro96Thr)not provided [RCV001983618]uncertain significance2024638812463881Humanname
151817617CV1435947single nucleotide variantNM_003091.4(SNRPB):c.289C>A (p.Leu97Ile)not provided [RCV001975412]uncertain significance2024638782463878Humanname
156060146CV2008221single nucleotide variantNM_003091.4(SNRPB):c.131A>C (p.Asp44Ala)not provided [RCV002705357]uncertain significance2024676312467631Humanname
156158411CV2142712single nucleotide variantNM_003091.4(SNRPB):c.176C>G (p.Ala59Gly)not provided [RCV002982907]uncertain significance2024657992465799Humanname
156368757CV2160325single nucleotide variantNM_003091.4(SNRPB):c.138T>G (p.Asp46Glu)not provided [RCV003032065]uncertain significance2024676242467624Humanname
156440086CV2401770deletionNM_003091.4(SNRPB):c.621del (p.Gly208fs)not provided [RCV003110058]likely pathogenic2024627002462700Humanname
405219296CV2903881single nucleotide variantNM_003091.4(SNRPB):c.206T>C (p.Leu69Pro)not provided [RCV003568164]uncertain significance2024657692465769Humanname
405128720CV3054303single nucleotide variantNM_003091.4(SNRPB):c.112A>G (p.Met38Val)not provided [RCV003724564]uncertain significance2024676502467650Humanname
405135126CV3160217single nucleotide variantNM_003091.4(SNRPB):c.245T>C (p.Val82Ala)not provided [RCV003855032]uncertain significance2024657302465730Humanname
405274478CV3208834duplicationNM_003091.4(SNRPB):c.451dup (p.Ala151fs)SNRPB-related disorder [RCV003951634]uncertain significance2024631962463197Humanname , trait , alternate_id
407507316CV3496266single nucleotide variantNM_003091.4(SNRPB):c.171A>T (p.Lys57Asn)not provided [RCV004698107]uncertain significance2024658042465804Humanname
408386865CV3518582single nucleotide variantNM_003091.4(SNRPB):c.217C>G (p.Arg73Gly)not provided [RCV004760900]uncertain significance2024657582465758Humanname
598171432CV3911600single nucleotide variantNM_003091.4(SNRPB):c.260C>A (p.Pro87His)Inborn genetic diseases [RCV005284840]uncertain significance2024657152465715Human1name
151841807CV1362941single nucleotide variantNM_003091.4(SNRPB):c.526C>G (p.Pro176Ala)not provided [RCV002015426]uncertain significance2024631222463122Humanname
151892191CV1423097single nucleotide variantNM_003091.4(SNRPB):c.615C>G (p.Ile205Met)not provided [RCV001943856]uncertain significance2024627062462706Humanname
151875155CV1459839single nucleotide variantNM_003091.4(SNRPB):c.400G>A (p.Val134Ile)not provided [RCV002036165]uncertain significance2024637672463767Humanname
151838523CV1470336single nucleotide variantNM_003091.4(SNRPB):c.443G>A (p.Gly148Asp)not provided [RCV001902563]uncertain significance2024632052463205Humanname
151864731CV1478850single nucleotide variantNM_003091.4(SNRPB):c.572C>A (p.Pro191Gln)not provided [RCV002018197]uncertain significance2024627492462749Humanname
151718300CV1509579single nucleotide variantNM_003091.4(SNRPB):c.530C>T (p.Pro177Leu)not provided [RCV001890681]uncertain significance2024631182463118Humanname
156441499CV1940883single nucleotide variantNM_003091.4(SNRPB):c.356C>T (p.Pro119Leu)not provided [RCV003111825]uncertain significance2024638112463811Humanname
156263795CV1960767single nucleotide variantNM_003091.4(SNRPB):c.530C>A (p.Pro177Gln)Inborn genetic diseases [RCV003269180]|not provided [RCV002576934]uncertain significance2024631182463118Human1name
156320520CV1976011single nucleotide variantNM_003091.4(SNRPB):c.530C>G (p.Pro177Arg)not provided [RCV002600201]uncertain significance2024631182463118Humanname
156089695CV2016284single nucleotide variantNM_003091.4(SNRPB):c.490G>C (p.Ala164Pro)not provided [RCV002706267]uncertain significance2024631582463158Humanname
156068444CV2018440single nucleotide variantNM_003091.4(SNRPB):c.653C>T (p.Pro218Leu)not provided [RCV002705606]uncertain significance2024626682462668Humanname
156381743CV2060861single nucleotide variantNM_003091.4(SNRPB):c.515G>A (p.Arg172His)not provided [RCV002815134]uncertain significance2024631332463133Humanname
156121269CV2174933single nucleotide variantNM_003091.4(SNRPB):c.607A>T (p.Met203Leu)Inborn genetic diseases [RCV005281298]|not provided [RCV003055476]uncertain significance2024627142462714Human1name
243061322CV2408837single nucleotide variantNM_003091.4(SNRPB):c.457G>A (p.Ala153Thr)Cerebro-costo-mandibular syndrome [RCV003138554]|not provided [RCV003778791]uncertain significance2024631912463191Human1name
11636491CV273704single nucleotide variantNM_003091.4(SNRPB):c.607A>G (p.Met203Val)Inborn genetic diseases [RCV005278545]|not provided [RCV000269890]uncertain significance2024627142462714Human1name
405180176CV2956194single nucleotide variantNM_003091.4(SNRPB):c.535A>G (p.Met179Val)not provided [RCV003676186]uncertain significance2024631132463113Humanname
405167194CV3156815single nucleotide variantNM_003091.4(SNRPB):c.359T>C (p.Met120Thr)not provided [RCV003857519]uncertain significance2024638082463808Humanname
405203847CV3165264single nucleotide variantNM_003091.4(SNRPB):c.526C>T (p.Pro176Ser)not provided [RCV003861125]uncertain significance2024631222463122Humanname
405731652CV3326290single nucleotide variantNM_003091.4(SNRPB):c.616C>T (p.Pro206Ser)Inborn genetic diseases [RCV004464414]uncertain significance2024627052462705Human1name
597925451CV3788218single nucleotide variantNM_003091.4(SNRPB):c.386G>T (p.Gly129Val)not provided [RCV005130909]uncertain significance2024637812463781Humanname
597972463CV3790323single nucleotide variantNM_003091.4(SNRPB):c.446C>T (p.Thr149Ile)not provided [RCV005142746]uncertain significance2024632022463202Humanname
597947417CV3800693single nucleotide variantNM_003091.4(SNRPB):c.569G>A (p.Gly190Asp)not provided [RCV005135093]uncertain significance2024627522462752Humanname
597858280CV3817042single nucleotide variantNM_003091.4(SNRPB):c.643A>G (p.Met215Val)not provided [RCV005146423]uncertain significance2024626782462678Humanname
598171437CV3911601single nucleotide variantNM_003091.4(SNRPB):c.352G>T (p.Val118Phe)Inborn genetic diseases [RCV005284841]uncertain significance2024638152463815Human1name
15200600CV757407single nucleotide variantNM_003091.4(SNRPB):c.604C>T (p.Pro202Ser)not provided [RCV000912892]benign2024627172462717Humanname
405731663CV3326292single nucleotide variantNM_003092.5(SNRPB2):c.519G>A (p.Gln173=)not specified [RCV004464416]likely benign201674084616740846Humanname
156164911CV2195928single nucleotide variantNM_003092.5(SNRPB2):c.227G>A (p.Gly76Asp)not specified [RCV004072186]uncertain significance201673232616732326Humanname
156268850CV2326333single nucleotide variantNM_003092.5(SNRPB2):c.179G>A (p.Gly60Asp)not specified [RCV004180875]uncertain significance201673227816732278Humanname
405731660CV3326291single nucleotide variantNM_003092.5(SNRPB2):c.146G>T (p.Arg49Met)not specified [RCV004464415]uncertain significance201673224516732245Humanname
401763653CV2717078single nucleotide variantNM_003092.5(SNRPB2):c.452A>G (p.Tyr151Cys)not specified [RCV004330104]uncertain significance201674034716740347Humanname
401877628CV2779888single nucleotide variantNM_003092.5(SNRPB2):c.361A>G (p.Asn121Asp)not specified [RCV004353503]uncertain significance201673738416737384Humanname
597745000CV3607100single nucleotide variantNM_003092.5(SNRPB2):c.337G>A (p.Val113Met)not specified [RCV004865582]uncertain significance201673736016737360Humanname
597745005CV3607101single nucleotide variantNM_003092.5(SNRPB2):c.356C>T (p.Thr119Ile)not specified [RCV004865583]uncertain significance201673737916737379Humanname