List of variants reported as uncertain significance for Cryptosporidiosis-chronic cholangitis-liver disease syndrome by Labcorp Genetics (formerly Invitae), Labcorp

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 159

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HGVS	dbSNP	gnomAD frequency
NM_181078.3(IL21R):c.605C>T (p.Ala202Val)	rs147673485	0.00055
NM_181078.3(IL21R):c.139C>T (p.Leu47Phe)	rs140808008	0.00033
NM_181078.3(IL21R):c.615G>C (p.Met205Ile)	rs201566028	0.00031
NM_181078.3(IL21R):c.467A>G (p.Tyr156Cys)	rs745372589	0.00011
NM_181078.3(IL21R):c.482G>C (p.Arg161Thr)	rs143921988	0.00011
NM_181078.3(IL21R):c.1412G>C (p.Gly471Ala)	rs776202922	0.00010
NM_181078.3(IL21R):c.257T>A (p.Phe86Tyr)	rs988781363	0.00009
NM_181078.3(IL21R):c.1442C>T (p.Pro481Leu)	rs141625630	0.00008
NM_181078.3(IL21R):c.1550G>A (p.Arg517Gln)	rs761950657	0.00007
NM_181078.3(IL21R):c.995C>T (p.Thr332Met)	rs761814669	0.00007
NM_181078.3(IL21R):c.1537G>A (p.Glu513Lys)	rs1009136590	0.00006
NM_181078.3(IL21R):c.833T>A (p.Met278Lys)	rs369667782	0.00006
NM_181078.3(IL21R):c.95C>T (p.Thr32Met)	rs374987749	0.00006
NM_181078.3(IL21R):c.128A>C (p.His43Pro)	rs757749249	0.00005
NM_181078.3(IL21R):c.1331G>A (p.Ser444Asn)	rs528051527	0.00005
NM_181078.3(IL21R):c.487C>T (p.Arg163Trp)	rs764839803	0.00005
NM_181078.3(IL21R):c.495C>A (p.Asp165Glu)	rs779790998	0.00005
NM_181078.3(IL21R):c.572G>A (p.Arg191His)	rs573484984	0.00005
NM_181078.3(IL21R):c.1034G>A (p.Gly345Asp)	rs759242116	0.00004
NM_181078.3(IL21R):c.209C>T (p.Ser70Leu)	rs780430063	0.00004
NM_181078.3(IL21R):c.505G>A (p.Val169Met)	rs142403771	0.00004
NM_181078.3(IL21R):c.64G>A (p.Asp22Asn)	rs149169230	0.00004
NM_181078.3(IL21R):c.1073C>T (p.Ser358Leu)	rs748354630	0.00003
NM_181078.3(IL21R):c.1316G>C (p.Gly439Ala)	rs199542730	0.00003
NM_181078.3(IL21R):c.1403G>A (p.Arg468Gln)	rs779279193	0.00003
NM_181078.3(IL21R):c.1583C>T (p.Pro528Leu)	rs376045198	0.00003
NM_181078.3(IL21R):c.542G>C (p.Arg181Thr)	rs758462314	0.00003
NM_181078.3(IL21R):c.770C>T (p.Thr257Ile)	rs200026397	0.00003
NM_181078.3(IL21R):c.968G>A (p.Arg323Gln)	rs144751116	0.00003
NM_181078.3(IL21R):c.1058C>T (p.Pro353Leu)	rs550842554	0.00002
NM_181078.3(IL21R):c.27G>T (p.Leu9Phe)	rs758665836	0.00002
NM_181078.3(IL21R):c.67C>T (p.Leu23Phe)	rs760116270	0.00002
NM_181078.3(IL21R):c.7C>T (p.Arg3Cys)	rs1385136152	0.00002
NM_181078.3(IL21R):c.962C>A (p.Pro321Gln)	rs747607462	0.00002
NM_181078.3(IL21R):c.1021G>A (p.Val341Met)	rs1017631687	0.00001
NM_181078.3(IL21R):c.117G>A (p.Met39Ile)	rs756330286	0.00001
NM_181078.3(IL21R):c.1192G>A (p.Gly398Ser)	rs758246145	0.00001
NM_181078.3(IL21R):c.1321C>T (p.Pro441Ser)	rs756335632	0.00001
NM_181078.3(IL21R):c.1364A>T (p.Asp455Val)	rs370088512	0.00001
NM_181078.3(IL21R):c.1402C>T (p.Arg468Trp)	rs776008613	0.00001
NM_181078.3(IL21R):c.1543C>A (p.Pro515Thr)	rs762518345	0.00001
NM_181078.3(IL21R):c.1562G>A (p.Arg521His)	rs372897692	0.00001
NM_181078.3(IL21R):c.1610C>T (p.Ala537Val)	rs530838561	0.00001
NM_181078.3(IL21R):c.181G>A (p.Glu61Lys)	rs765293093	0.00001
NM_181078.3(IL21R):c.191C>T (p.Ser64Phe)	rs758877703	0.00001
NM_181078.3(IL21R):c.224C>T (p.Thr75Met)	rs747751606	0.00001
NM_181078.3(IL21R):c.260A>G (p.His87Arg)	rs1439154337	0.00001
NM_181078.3(IL21R):c.453G>A (p.Lys151=)	rs1555498308	0.00001
NM_181078.3(IL21R):c.457A>G (p.Lys153Glu)	rs149485226	0.00001
NM_181078.3(IL21R):c.512C>T (p.Pro171Leu)	rs367586016	0.00001
NM_181078.3(IL21R):c.581C>T (p.Ser194Leu)	rs374130131	0.00001
NM_181078.3(IL21R):c.602G>A (p.Arg201Gln)	rs397514685	0.00001
NM_181078.3(IL21R):c.607G>A (p.Gly203Arg)	rs1430665419	0.00001
NM_181078.3(IL21R):c.734T>C (p.Val245Ala)	rs138134818	0.00001
NM_181078.3(IL21R):c.76T>C (p.Tyr26His)	rs1021436946	0.00001
NM_181078.3(IL21R):c.775C>T (p.Pro259Ser)	rs534119618	0.00001
NM_181078.3(IL21R):c.865A>C (p.Lys289Gln)	rs1252604703	0.00001
NM_181078.3(IL21R):c.8G>A (p.Arg3His)	rs913538510	0.00001
NM_181078.3(IL21R):c.974C>T (p.Pro325Leu)	rs569320047	0.00001
NM_181078.3(IL21R):c.976G>A (p.Ala326Thr)	rs1171960252	0.00001
NM_181078.3(IL21R):c.977C>T (p.Ala326Val)	rs773983329	0.00001
NM_181078.3(IL21R):c.980A>C (p.Lys327Thr)	rs747283184	0.00001
NM_181078.3(IL21R):c.1001T>C (p.Leu334Pro)
NM_181078.3(IL21R):c.1003C>A (p.Gln335Lys)	rs954730051
NM_181078.3(IL21R):c.1013C>T (p.Ala338Val)	rs2087529653
NM_181078.3(IL21R):c.1028C>G (p.Ser343Cys)	rs2141318837
NM_181078.3(IL21R):c.1030G>C (p.Asp344His)
NM_181078.3(IL21R):c.1040C>T (p.Pro347Leu)	rs1596600087
NM_181078.3(IL21R):c.1046C>T (p.Pro349Leu)
NM_181078.3(IL21R):c.1049G>A (p.Ser350Asn)	rs752397166
NM_181078.3(IL21R):c.1050C>A (p.Ser350Arg)	rs755746046
NM_181078.3(IL21R):c.1052T>C (p.Phe351Ser)
NM_181078.3(IL21R):c.1057C>T (p.Pro353Ser)	rs753850374
NM_181078.3(IL21R):c.1064C>A (p.Ala355Asp)	rs1217511255
NM_181078.3(IL21R):c.1071C>A (p.Asn357Lys)	rs1442303038
NM_181078.3(IL21R):c.1075G>A (p.Gly359Arg)
NM_181078.3(IL21R):c.1076G>T (p.Gly359Val)
NM_181078.3(IL21R):c.10G>A (p.Gly4Ser)
NM_181078.3(IL21R):c.1105C>T (p.Arg369Trp)	rs771285932
NM_181078.3(IL21R):c.1121T>C (p.Val374Ala)	rs2087533531
NM_181078.3(IL21R):c.1124C>T (p.Ser375Phe)	rs2141319216
NM_181078.3(IL21R):c.1178G>C (p.Ser393Thr)	rs375328425
NM_181078.3(IL21R):c.1178G>T (p.Ser393Ile)	rs375328425
NM_181078.3(IL21R):c.1189G>T (p.Asp397Tyr)	rs539289321
NM_181078.3(IL21R):c.121A>G (p.Asn41Asp)
NM_181078.3(IL21R):c.1225_1226delinsAC (p.Glu409Thr)	rs1567374926
NM_181078.3(IL21R):c.1243G>C (p.Glu415Gln)	rs2087536408
NM_181078.3(IL21R):c.1277T>C (p.Leu426Pro)	rs776206056
NM_181078.3(IL21R):c.1286G>T (p.Gly429Val)
NM_181078.3(IL21R):c.1316G>A (p.Gly439Glu)	rs199542730
NM_181078.3(IL21R):c.1321C>A (p.Pro441Thr)	rs756335632
NM_181078.3(IL21R):c.1325T>G (p.Leu442Arg)
NM_181078.3(IL21R):c.1330A>G (p.Ser444Gly)
NM_181078.3(IL21R):c.1351C>T (p.Pro451Ser)	rs757335123
NM_181078.3(IL21R):c.1360G>A (p.Ala454Thr)	rs1309030719
NM_181078.3(IL21R):c.1363G>C (p.Asp455His)
NM_181078.3(IL21R):c.1415G>C (p.Gly472Ala)	rs1399898216
NM_181078.3(IL21R):c.143C>A (p.Thr48Asn)
NM_181078.3(IL21R):c.1460T>G (p.Met487Arg)	rs757464564
NM_181078.3(IL21R):c.1463A>G (p.Asp488Gly)
NM_181078.3(IL21R):c.1474A>G (p.Ser492Gly)	rs2087542716
NM_181078.3(IL21R):c.1487G>T (p.Gly496Val)	rs780769847
NM_181078.3(IL21R):c.1489T>C (p.Ser497Pro)	rs1567375303
NM_181078.3(IL21R):c.149C>G (p.Thr50Ser)	rs776178795
NM_181078.3(IL21R):c.1528C>T (p.Pro510Ser)
NM_181078.3(IL21R):c.1544C>A (p.Pro515His)	rs546105423
NM_181078.3(IL21R):c.1544C>T (p.Pro515Leu)	rs546105423
NM_181078.3(IL21R):c.1592C>T (p.Ser531Leu)
NM_181078.3(IL21R):c.1607A>G (p.Gln536Arg)
NM_181078.3(IL21R):c.17C>T (p.Ala6Val)	rs577126383
NM_181078.3(IL21R):c.20C>G (p.Ala7Gly)	rs559469718
NM_181078.3(IL21R):c.314A>C (p.Tyr105Ser)	rs2141295557
NM_181078.3(IL21R):c.334T>C (p.Phe112Leu)	rs2141295621
NM_181078.3(IL21R):c.359C>T (p.Pro120Leu)
NM_181078.3(IL21R):c.376G>A (p.Val126Met)
NM_181078.3(IL21R):c.386C>T (p.Thr129Ile)	rs2087415911
NM_181078.3(IL21R):c.3_4delinsAA (p.Met1_Pro2delinsIleThr)	rs1567364201
NM_181078.3(IL21R):c.433C>A (p.Pro145Thr)
NM_181078.3(IL21R):c.433C>T (p.Pro145Ser)	rs749503528
NM_181078.3(IL21R):c.437C>G (p.Ala146Gly)	rs774265226
NM_181078.3(IL21R):c.481A>G (p.Arg161Gly)	rs2087418017
NM_181078.3(IL21R):c.48A>G (p.Gly16=)	rs768921476
NM_181078.3(IL21R):c.50-16C>A
NM_181078.3(IL21R):c.508-7_508-6delinsAC	rs2087443732
NM_181078.3(IL21R):c.515G>C (p.Arg172Thr)	rs2087443936
NM_181078.3(IL21R):c.545G>A (p.Ser182Asn)	rs2087444395
NM_181078.3(IL21R):c.553C>T (p.Leu185Phe)
NM_181078.3(IL21R):c.557T>C (p.Leu186Pro)
NM_181078.3(IL21R):c.585C>G (p.Ser195Arg)	rs773814550
NM_181078.3(IL21R):c.598G>A (p.Val200Met)	rs759494920
NM_181078.3(IL21R):c.598G>T (p.Val200Leu)	rs759494920
NM_181078.3(IL21R):c.601C>T (p.Arg201Trp)
NM_181078.3(IL21R):c.611C>T (p.Pro204Leu)	rs1240233597
NM_181078.3(IL21R):c.62C>T (p.Pro21Leu)
NM_181078.3(IL21R):c.680C>T (p.Ser227Leu)
NM_181078.3(IL21R):c.685+4G>C	rs2141310113
NM_181078.3(IL21R):c.70G>A (p.Val24Ile)
NM_181078.3(IL21R):c.70G>T (p.Val24Phe)	rs201895589
NM_181078.3(IL21R):c.715C>A (p.Leu239Met)	rs2141311074
NM_181078.3(IL21R):c.776del (p.Pro259fs)
NM_181078.3(IL21R):c.787C>A (p.Leu263Ile)
NM_181078.3(IL21R):c.790T>C (p.Trp264Arg)	rs2087470609
NM_181078.3(IL21R):c.800T>C (p.Ile267Thr)	rs1303388360
NM_181078.3(IL21R):c.823C>G (p.Arg275Gly)	rs200379224
NM_181078.3(IL21R):c.823C>T (p.Arg275Trp)	rs200379224
NM_181078.3(IL21R):c.833T>G (p.Met278Arg)	rs369667782
NM_181078.3(IL21R):c.835C>A (p.Pro279Thr)
NM_181078.3(IL21R):c.835C>T (p.Pro279Ser)	rs2087472224
NM_181078.3(IL21R):c.839T>C (p.Leu280Pro)	rs1555498519
NM_181078.3(IL21R):c.853A>C (p.Ser285Arg)
NM_181078.3(IL21R):c.875T>C (p.Val292Ala)	rs1596599736
NM_181078.3(IL21R):c.910G>T (p.Gly304Ter)	rs2087526618
NM_181078.3(IL21R):c.934T>C (p.Ser312Pro)	rs1596599840
NM_181078.3(IL21R):c.937A>G (p.Thr313Ala)	rs1567374436
NM_181078.3(IL21R):c.947T>C (p.Val316Ala)
NM_181078.3(IL21R):c.970A>G (p.Ser324Gly)
NM_181078.3(IL21R):c.972C>A (p.Ser324Arg)	rs2141318656
NM_181078.3(IL21R):c.983G>A (p.Arg328Lys)
NM_181078.3(IL21R):c.985C>G (p.Leu329Val)

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