ClinVar Miner

List of variants in gene SGSH reported as uncertain significance for mucopolysaccharidosis type 3A

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 356
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HGVS dbSNP gnomAD frequency
NM_000199.5(SGSH):c.*93A>G rs111628992 0.00267
NM_000199.5(SGSH):c.*232T>C rs113462619 0.00254
NM_000199.5(SGSH):c.411G>A (p.Ala137=) rs142557761 0.00230
NM_000199.5(SGSH):c.*657C>T rs564023302 0.00160
NM_000199.5(SGSH):c.752G>C (p.Gly251Ala) rs144461610 0.00148
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938 0.00113
NM_000199.5(SGSH):c.390C>T (p.Thr130=) rs111761143 0.00105
NM_000199.5(SGSH):c.181C>T (p.Arg61Cys) rs142309764 0.00103
NM_000199.5(SGSH):c.1446C>T (p.Ala482=) rs113679696 0.00097
NM_000199.5(SGSH):c.1322G>A (p.Arg441Gln) rs142599919 0.00096
NM_000199.5(SGSH):c.303C>T (p.Phe101=) rs150482611 0.00088
NM_000199.5(SGSH):c.*378G>A rs372712517 0.00083
NM_000199.5(SGSH):c.1209C>T (p.Tyr403=) rs115750405 0.00053
NM_000199.5(SGSH):c.*499C>T rs886053555 0.00051
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=) rs141153056 0.00050
NM_000199.5(SGSH):c.1317C>T (p.Tyr439=) rs146522699 0.00044
NM_000199.5(SGSH):c.67C>T (p.Arg23Trp) rs529571746 0.00035
NM_000199.5(SGSH):c.144G>A (p.Pro48=) rs145970971 0.00034
NM_000199.5(SGSH):c.89-4G>A rs375536965 0.00032
NM_000199.5(SGSH):c.999C>T (p.Tyr333=) rs149139346 0.00030
NM_000199.5(SGSH):c.*501C>T rs377165572 0.00029
NM_000199.5(SGSH):c.780C>T (p.Ala260=) rs530964770 0.00023
NM_000199.5(SGSH):c.676G>A (p.Val226Ile) rs145967352 0.00022
NM_000199.5(SGSH):c.1076C>T (p.Ala359Val) rs202150579 0.00020
NM_000199.5(SGSH):c.*890G>A rs111726823 0.00019
NM_000199.5(SGSH):c.570C>T (p.Tyr190=) rs149951602 0.00019
NM_000199.5(SGSH):c.276C>G (p.His92Gln) rs201478799 0.00015
NM_000199.5(SGSH):c.534C>T (p.His178=) rs139484283 0.00012
NM_000199.5(SGSH):c.*126G>A rs546128310 0.00011
NM_000199.5(SGSH):c.1049C>T (p.Pro350Leu) rs144035603 0.00011
NM_000199.5(SGSH):c.*471G>A rs138717045 0.00010
NM_000199.5(SGSH):c.250-15C>T rs369082713 0.00010
NM_000199.5(SGSH):c.730G>A (p.Gly244Ser) rs773480617 0.00010
NM_000199.5(SGSH):c.964A>G (p.Ile322Val) rs151243903 0.00010
NM_000199.5(SGSH):c.1321C>T (p.Arg441Trp) rs751604358 0.00009
NM_000199.5(SGSH):c.1328G>A (p.Arg443Gln) rs377605690 0.00009
NM_000199.5(SGSH):c.349C>T (p.Arg117Cys) rs772732363 0.00009
NM_000199.5(SGSH):c.417G>A (p.Thr139=) rs142729872 0.00009
NM_000199.5(SGSH):c.506+9C>T rs376523398 0.00009
NM_000199.5(SGSH):c.636C>T (p.Pro212=) rs771680187 0.00009
NM_000199.5(SGSH):c.746-15G>A rs373302525 0.00009
NM_000199.5(SGSH):c.720C>T (p.Tyr240=) rs367654527 0.00007
NM_000199.5(SGSH):c.781G>A (p.Gly261Ser) rs149248428 0.00007
NM_000199.5(SGSH):c.*834A>G rs1022741298 0.00006
NM_000199.5(SGSH):c.1301C>T (p.Ala434Val) rs76375023 0.00006
NM_000199.5(SGSH):c.1302G>A (p.Ala434=) rs376787615 0.00006
NM_000199.5(SGSH):c.1364C>T (p.Pro455Leu) rs766272590 0.00006
NM_000199.5(SGSH):c.1462G>A (p.Glu488Lys) rs145645179 0.00006
NM_000199.5(SGSH):c.432C>T (p.Ser144=) rs200194908 0.00006
NM_000199.5(SGSH):c.264G>A (p.Met88Ile) rs1178488696 0.00005
NM_000199.5(SGSH):c.1042C>T (p.Leu348Phe) rs146494740 0.00004
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111 0.00004
NM_000199.5(SGSH):c.1134C>T (p.Ser378=) rs771257931 0.00004
NM_000199.5(SGSH):c.1135G>A (p.Val379Met) rs541847913 0.00004
NM_000199.5(SGSH):c.1241G>A (p.Arg414His) rs200320139 0.00004
NM_000199.5(SGSH):c.166C>T (p.Arg56Cys) rs761780038 0.00004
NM_000199.5(SGSH):c.314G>A (p.Arg105Gln) rs375058146 0.00004
NM_000199.5(SGSH):c.792C>T (p.Asn264=) rs147962306 0.00004
NM_000199.5(SGSH):c.89-10C>T rs766929408 0.00004
NM_000199.5(SGSH):c.89C>T (p.Ala30Val) rs767227727 0.00004
NM_000199.5(SGSH):c.*309G>A rs566654466 0.00003
NM_000199.5(SGSH):c.*459C>T rs532130517 0.00003
NM_000199.5(SGSH):c.1303C>T (p.Arg435Cys) rs373496399 0.00003
NM_000199.5(SGSH):c.1361A>T (p.Asp454Val) rs145490072 0.00003
NM_000199.5(SGSH):c.1456G>A (p.Val486Ile) rs764585957 0.00003
NM_000199.5(SGSH):c.391G>A (p.Val131Met) rs370636303 0.00003
NM_000199.5(SGSH):c.585G>C (p.Glu195Asp) rs756193095 0.00003
NM_000199.5(SGSH):c.633C>A (p.Thr211=) rs187147954 0.00003
NM_000199.5(SGSH):c.808T>C (p.Phe270Leu) rs570170198 0.00003
NM_000199.5(SGSH):c.950-65C>T rs537972451 0.00003
NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe) rs780239925 0.00002
NM_000199.5(SGSH):c.1259C>T (p.Pro420Leu) rs150222010 0.00002
NM_000199.5(SGSH):c.1325G>A (p.Ser442Asn) rs1047935424 0.00002
NM_000199.5(SGSH):c.136G>A (p.Ala46Thr) rs772636496 0.00002
NM_000199.5(SGSH):c.1371T>C (p.Phe457=) rs867660906 0.00002
NM_000199.5(SGSH):c.153C>T (p.Asp51=) rs372226239 0.00002
NM_000199.5(SGSH):c.478C>T (p.Arg160Trp) rs189571889 0.00002
NM_000199.5(SGSH):c.527C>A (p.Ala176Asp) rs760996554 0.00002
NM_000199.5(SGSH):c.537C>T (p.Asp179=) rs771440037 0.00002
NM_000199.5(SGSH):c.574A>G (p.Thr192Ala) rs764278674 0.00002
NM_000199.5(SGSH):c.65C>T (p.Pro22Leu) rs1212600929 0.00002
NM_000199.5(SGSH):c.683A>G (p.Asn228Ser) rs771177142 0.00002
NM_000199.5(SGSH):c.689C>T (p.Pro230Leu) rs748671633 0.00002
NM_000199.5(SGSH):c.698G>A (p.Arg233Gln) rs370291256 0.00002
NM_000199.5(SGSH):c.727G>A (p.Val243Ile) rs770944322 0.00002
NM_000199.5(SGSH):c.*1098G>A rs886053551 0.00001
NM_000199.5(SGSH):c.*369C>T rs886053557 0.00001
NM_000199.5(SGSH):c.*506C>T rs1011435930 0.00001
NM_000199.5(SGSH):c.*994G>A rs929179426 0.00001
NM_000199.5(SGSH):c.1035C>T (p.Gly345=) rs748069998 0.00001
NM_000199.5(SGSH):c.1037G>A (p.Arg346Gln) rs367883023 0.00001
NM_000199.5(SGSH):c.1052C>T (p.Ala351Val) rs139075692 0.00001
NM_000199.5(SGSH):c.1108G>A (p.Val370Ile) rs201061563 0.00001
NM_000199.5(SGSH):c.1145G>A (p.Arg382Gln) rs779661554 0.00001
NM_000199.5(SGSH):c.1147C>A (p.His383Asn) rs922205597 0.00001
NM_000199.5(SGSH):c.1154G>A (p.Arg385His) rs944844493 0.00001
NM_000199.5(SGSH):c.115G>A (p.Ala39Thr) rs773137508 0.00001
NM_000199.5(SGSH):c.1190C>T (p.Pro397Leu) rs772080776 0.00001
NM_000199.5(SGSH):c.1229A>G (p.Asp410Gly) rs748612821 0.00001
NM_000199.5(SGSH):c.122A>G (p.Asn41Ser) rs2041923714 0.00001
NM_000199.5(SGSH):c.1240C>T (p.Arg414Cys) rs1354462020 0.00001
NM_000199.5(SGSH):c.1244C>G (p.Thr415Ser) rs778602791 0.00001
NM_000199.5(SGSH):c.1262C>T (p.Thr421Met) rs767649680 0.00001
NM_000199.5(SGSH):c.1270T>C (p.Tyr424His) rs766657191 0.00001
NM_000199.5(SGSH):c.1304G>A (p.Arg435His) rs370528435 0.00001
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr) rs1057521146 0.00001
NM_000199.5(SGSH):c.1393C>T (p.Arg465Trp) rs754273400 0.00001
NM_000199.5(SGSH):c.1419G>C (p.Trp473Cys) rs1453217230 0.00001
NM_000199.5(SGSH):c.1444G>A (p.Ala482Thr) rs780969693 0.00001
NM_000199.5(SGSH):c.1445C>T (p.Ala482Val) rs376296818 0.00001
NM_000199.5(SGSH):c.1453G>A (p.Gly485Ser) rs779083605 0.00001
NM_000199.5(SGSH):c.1455C>T (p.Gly485=) rs757563981 0.00001
NM_000199.5(SGSH):c.223G>A (p.Ala75Thr) rs137953179 0.00001
NM_000199.5(SGSH):c.258T>C (p.Asn86=) rs1425717342 0.00001
NM_000199.5(SGSH):c.292T>C (p.Phe98Leu) rs777669364 0.00001
NM_000199.5(SGSH):c.297C>G (p.Asn99Lys) rs755846091 0.00001
NM_000199.5(SGSH):c.309G>A (p.Lys103=) rs751641089 0.00001
NM_000199.5(SGSH):c.355+9C>T rs746912493 0.00001
NM_000199.5(SGSH):c.356-6G>A rs764808311 0.00001
NM_000199.5(SGSH):c.416C>T (p.Thr139Met) rs775112689 0.00001
NM_000199.5(SGSH):c.440A>G (p.Gln147Arg) rs1408975480 0.00001
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp) rs1479831530 0.00001
NM_000199.5(SGSH):c.468G>T (p.Lys156Asn) rs780700374 0.00001
NM_000199.5(SGSH):c.503A>C (p.Asp168Ala) rs774333201 0.00001
NM_000199.5(SGSH):c.506+4T>A rs1378763987 0.00001
NM_000199.5(SGSH):c.523G>A (p.Val175Ile) rs753921560 0.00001
NM_000199.5(SGSH):c.548G>A (p.Cys183Tyr) rs1329133410 0.00001
NM_000199.5(SGSH):c.681C>A (p.Pro227=) rs2041774244 0.00001
NM_000199.5(SGSH):c.688C>T (p.Pro230Ser) rs756437160 0.00001
NM_000199.5(SGSH):c.75A>C (p.Ala25=) rs1262969566 0.00001
NM_000199.5(SGSH):c.773G>A (p.Arg258His) rs549606472 0.00001
NM_000199.5(SGSH):c.798A>G (p.Thr266=) rs199562202 0.00001
NM_000199.5(SGSH):c.813G>A (p.Thr271=) rs779676466 0.00001
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn) rs1046551417 0.00001
NM_000199.5(SGSH):c.88+8C>T rs75720127 0.00001
NM_000199.5(SGSH):c.886G>T (p.Val296Leu) rs1189287474 0.00001
NM_000199.5(SGSH):c.896C>T (p.Pro299Leu) rs776306411 0.00001
NM_000199.5(SGSH):c.911G>T (p.Arg304Leu) rs745884647 0.00001
NM_000199.5(SGSH):c.937G>T (p.Val313Leu) rs769385447 0.00001
NM_000199.5(SGSH):c.93T>C (p.Asp31=) rs982161788 0.00001
NM_000199.5(SGSH):c.942C>T (p.Ser314=) rs759810426 0.00001
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246 0.00001
NM_000199.5(SGSH):c.98G>A (p.Gly33Glu) rs762732038 0.00001
NM_000199.5(SGSH):c.997T>C (p.Tyr333His) rs924984538 0.00001
NC_000017.10:g.(?_78188394)_(78194112_?)dup
NM_000199.5(SGSH):c.*1008C>T rs886053553
NM_000199.5(SGSH):c.*1078A>G rs886053552
NM_000199.5(SGSH):c.*452G>A rs886053556
NM_000199.5(SGSH):c.*69C>T rs576879796
NM_000199.5(SGSH):c.*712G>T rs1360057013
NM_000199.5(SGSH):c.*891A>G rs903251344
NM_000199.5(SGSH):c.*95A>T rs2041585066
NM_000199.5(SGSH):c.*978C>T rs886053554
NM_000199.5(SGSH):c.1004T>C (p.Ile335Thr)
NM_000199.5(SGSH):c.1013C>T (p.Ser338Leu)
NM_000199.5(SGSH):c.1015A>G (p.Lys339Glu)
NM_000199.5(SGSH):c.1024C>G (p.His342Asp)
NM_000199.5(SGSH):c.1027C>T (p.Leu343Phe)
NM_000199.5(SGSH):c.1043T>C (p.Leu348Pro) rs886321925
NM_000199.5(SGSH):c.1045_1071del (p.Leu349_Leu357del) rs1555620306
NM_000199.5(SGSH):c.1066C>A (p.Pro356Thr)
NM_000199.5(SGSH):c.1073G>T (p.Trp358Leu)
NM_000199.5(SGSH):c.1079C>A (p.Thr360Asn)
NM_000199.5(SGSH):c.1084T>G (p.Phe362Val) rs1555620294
NM_000199.5(SGSH):c.1090A>G (p.Ser364Gly) rs2144696405
NM_000199.5(SGSH):c.1092C>A (p.Ser364Arg) rs1428699412
NM_000199.5(SGSH):c.111T>A (p.Ser37Arg) rs1434209913
NM_000199.5(SGSH):c.1127T>C (p.Met376Thr) rs775729169
NM_000199.5(SGSH):c.1130G>T (p.Arg377Leu) rs746037899
NM_000199.5(SGSH):c.1144C>T (p.Arg382Trp)
NM_000199.5(SGSH):c.1153C>T (p.Arg385Cys)
NM_000199.5(SGSH):c.1159G>C (p.Val387Leu)
NM_000199.5(SGSH):c.1159G>T (p.Val387Leu) rs62620232
NM_000199.5(SGSH):c.1162C>T (p.His388Tyr)
NM_000199.5(SGSH):c.116C>T (p.Ala39Val)
NM_000199.5(SGSH):c.1172A>G (p.Asn391Ser) rs2041614381
NM_000199.5(SGSH):c.1173_1178del (p.Asn391_Phe392del) rs2041613993
NM_000199.5(SGSH):c.1183C>T (p.Pro395Ser)
NM_000199.5(SGSH):c.1195G>A (p.Asp399Asn) rs1064794815
NM_000199.5(SGSH):c.119A>C (p.Tyr40Ser) rs1555623007
NM_000199.5(SGSH):c.119ACA[2] (p.Asn42del)
NM_000199.5(SGSH):c.1208A>G (p.Tyr403Cys)
NM_000199.5(SGSH):c.123C>A (p.Asn41Lys) rs1230391147
NM_000199.5(SGSH):c.1240C>G (p.Arg414Gly)
NM_000199.5(SGSH):c.1241G>T (p.Arg414Leu)
NM_000199.5(SGSH):c.1241_1244dup (p.Thr416fs) rs1412408576
NM_000199.5(SGSH):c.1253G>C (p.Gly418Ala)
NM_000199.5(SGSH):c.1268G>C (p.Trp423Ser) rs886053559
NM_000199.5(SGSH):c.1280_1285del (p.Leu427_Arg428del) rs2144692301
NM_000199.5(SGSH):c.1282C>T (p.Arg428Cys)
NM_000199.5(SGSH):c.1286A>T (p.His429Leu)
NM_000199.5(SGSH):c.1287_1289del (p.Tyr432del) rs1555620148
NM_000199.5(SGSH):c.1295_1303del (p.Tyr432_Arg435delinsCys) rs1567914835
NM_000199.5(SGSH):c.1304G>T (p.Arg435Leu) rs370528435
NM_000199.5(SGSH):c.1316A>G (p.Tyr439Cys) rs900198526
NM_000199.5(SGSH):c.1318G>A (p.Asp440Asn) rs886053558
NM_000199.5(SGSH):c.1320C>A (p.Asp440Glu)
NM_000199.5(SGSH):c.1327C>T (p.Arg443Trp)
NM_000199.5(SGSH):c.1338C>G (p.His446Gln) rs762208419
NM_000199.5(SGSH):c.1343C>T (p.Thr448Ile) rs980620540
NM_000199.5(SGSH):c.1366C>T (p.Arg456Cys)
NM_000199.5(SGSH):c.1380del (p.Leu461fs) rs1555620092
NM_000199.5(SGSH):c.1394G>A (p.Arg465Gln)
NM_000199.5(SGSH):c.1403T>C (p.Leu468Pro) rs2041599125
NM_000199.5(SGSH):c.140C>T (p.Thr47Ile)
NM_000199.5(SGSH):c.1416G>C (p.Gln472His) rs1555620072
NM_000199.5(SGSH):c.1424C>G (p.Thr475Ser) rs2144689101
NM_000199.5(SGSH):c.1438G>T (p.Val480Leu) rs1474556145
NM_000199.5(SGSH):c.143C>T (p.Pro48Leu)
NM_000199.5(SGSH):c.1444G>T (p.Ala482Ser) rs780969693
NM_000199.5(SGSH):c.1445_1446insT (p.Asp484fs) rs1555620043
NM_000199.5(SGSH):c.1450G>A (p.Asp484Asn)
NM_000199.5(SGSH):c.1456G>C (p.Val486Leu) rs764585957
NM_000199.5(SGSH):c.1462GAG[1] (p.Glu489del) rs1252944094
NM_000199.5(SGSH):c.146A>G (p.His49Arg) rs1598757846
NM_000199.5(SGSH):c.1474T>C (p.Ser492Pro)
NM_000199.5(SGSH):c.1481A>G (p.Gln494Arg) rs562445330
NM_000199.5(SGSH):c.1486C>T (p.Gln496Ter) rs1232231848
NM_000199.5(SGSH):c.1490C>T (p.Pro497Leu) rs1281022554
NM_000199.5(SGSH):c.1499A>G (p.Asn500Ser) rs779856036
NM_000199.5(SGSH):c.151G>A (p.Asp51Asn) rs2144782205
NM_000199.5(SGSH):c.164G>A (p.Arg55His)
NM_000199.5(SGSH):c.169A>G (p.Ser57Gly)
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg) rs1131691434
NM_000199.5(SGSH):c.175C>T (p.Leu59Phe) rs1555622928
NM_000199.5(SGSH):c.182G>A (p.Arg61His)
NM_000199.5(SGSH):c.182G>T (p.Arg61Leu)
NM_000199.5(SGSH):c.184A>G (p.Asn62Asp)
NM_000199.5(SGSH):c.185A>G (p.Asn62Ser) rs1396883948
NM_000199.5(SGSH):c.188C>T (p.Ala63Val) rs985515930
NM_000199.5(SGSH):c.205A>G (p.Ser69Gly)
NM_000199.5(SGSH):c.211T>C (p.Ser71Pro) rs398123245
NM_000199.5(SGSH):c.223G>T (p.Ala75Ser)
NM_000199.5(SGSH):c.232C>T (p.Leu78Phe)
NM_000199.5(SGSH):c.23G>A (p.Cys8Tyr) rs2144833092
NM_000199.5(SGSH):c.244C>A (p.Pro82Thr) rs1385318543
NM_000199.5(SGSH):c.244C>T (p.Pro82Ser) rs1385318543
NM_000199.5(SGSH):c.251A>G (p.His84Arg) rs2144755254
NM_000199.5(SGSH):c.272T>C (p.Leu91Pro) rs2144755037
NM_000199.5(SGSH):c.278A>G (p.Gln93Arg) rs2041839563
NM_000199.5(SGSH):c.288C>A (p.His96Gln)
NM_000199.5(SGSH):c.299C>A (p.Ser100Tyr)
NM_000199.5(SGSH):c.299C>T (p.Ser100Phe) rs2144754691
NM_000199.5(SGSH):c.304G>A (p.Asp102Asn)
NM_000199.5(SGSH):c.308A>G (p.Lys103Arg)
NM_000199.5(SGSH):c.313C>T (p.Arg105Trp)
NM_000199.5(SGSH):c.323C>T (p.Pro108Leu)
NM_000199.5(SGSH):c.323_331del (p.Pro108_Leu110del)
NM_000199.5(SGSH):c.335G>C (p.Ser112Thr) rs773947080
NM_000199.5(SGSH):c.344G>C (p.Gly115Ala) rs770321343
NM_000199.5(SGSH):c.344G>T (p.Gly115Val)
NM_000199.5(SGSH):c.350G>A (p.Arg117His)
NM_000199.5(SGSH):c.356-3C>G rs1361176382
NM_000199.5(SGSH):c.359_360delinsAT (p.Ile120Asn)
NM_000199.5(SGSH):c.35T>G (p.Leu12Arg)
NM_000199.5(SGSH):c.367AAG[1] (p.Lys124del) rs1555621974
NM_000199.5(SGSH):c.376G>A (p.Val126Met) rs775553760
NM_000199.5(SGSH):c.376G>C (p.Val126Leu) rs775553760
NM_000199.5(SGSH):c.380G>A (p.Gly127Glu)
NM_000199.5(SGSH):c.385G>C (p.Glu129Gln)
NM_000199.5(SGSH):c.389C>T (p.Thr130Ile)
NM_000199.5(SGSH):c.38T>C (p.Leu13Pro)
NM_000199.5(SGSH):c.398C>T (p.Pro133Leu) rs781743238
NM_000199.5(SGSH):c.406T>A (p.Phe136Ile)
NM_000199.5(SGSH):c.415A>T (p.Thr139Ser) rs760564328
NM_000199.5(SGSH):c.430T>A (p.Ser144Thr)
NM_000199.5(SGSH):c.433G>A (p.Val145Ile)
NM_000199.5(SGSH):c.437T>C (p.Leu146Pro) rs749358773
NM_000199.5(SGSH):c.475G>A (p.Val159Ile)
NM_000199.5(SGSH):c.479G>A (p.Arg160Gln)
NM_000199.5(SGSH):c.479G>T (p.Arg160Leu)
NM_000199.5(SGSH):c.483A>G (p.Lys161=) rs2144748407
NM_000199.5(SGSH):c.48_50dup (p.Leu17dup) rs1555624091
NM_000199.5(SGSH):c.506+13G>T rs201177560
NM_000199.5(SGSH):c.506+3A>G rs1460108613
NM_000199.5(SGSH):c.508C>G (p.Pro170Ala)
NM_000199.5(SGSH):c.526G>A (p.Ala176Thr)
NM_000199.5(SGSH):c.527C>G (p.Ala176Gly) rs760996554
NM_000199.5(SGSH):c.52T>G (p.Cys18Gly) rs1171316652
NM_000199.5(SGSH):c.532C>G (p.His178Asp) rs1598748596
NM_000199.5(SGSH):c.535G>A (p.Asp179Asn)
NM_000199.5(SGSH):c.542A>G (p.His181Arg) rs776228545
NM_000199.5(SGSH):c.563C>T (p.Pro188Leu)
NM_000199.5(SGSH):c.580T>C (p.Cys194Arg)
NM_000199.5(SGSH):c.58G>C (p.Ala20Pro)
NM_000199.5(SGSH):c.607G>A (p.Gly203Ser)
NM_000199.5(SGSH):c.617G>A (p.Arg206His)
NM_000199.5(SGSH):c.61C>A (p.Arg21Ser)
NM_000199.5(SGSH):c.622C>T (p.Pro208Ser)
NM_000199.5(SGSH):c.628T>C (p.Trp210Arg) rs1268158872
NM_000199.5(SGSH):c.632C>T (p.Thr211Ile)
NM_000199.5(SGSH):c.637C>A (p.Gln213Lys) rs200644359
NM_000199.5(SGSH):c.637C>G (p.Gln213Glu)
NM_000199.5(SGSH):c.643T>C (p.Tyr215His)
NM_000199.5(SGSH):c.658G>A (p.Val220Met) rs150508741
NM_000199.5(SGSH):c.658G>C (p.Val220Leu) rs150508741
NM_000199.5(SGSH):c.658G>T (p.Val220Leu) rs150508741
NM_000199.5(SGSH):c.659T>G (p.Val220Gly) rs2144741986
NM_000199.5(SGSH):c.663+3A>G rs2144741879
NM_000199.5(SGSH):c.663+3dup
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu) rs34520362
NM_000199.5(SGSH):c.67C>G (p.Arg23Gly)
NM_000199.5(SGSH):c.697C>G (p.Arg233Gly) rs374621913
NM_000199.5(SGSH):c.712G>A (p.Ala238Thr)
NM_000199.5(SGSH):c.718T>A (p.Tyr240Asn) rs886053560
NM_000199.5(SGSH):c.721A>G (p.Thr241Ala)
NM_000199.5(SGSH):c.722C>T (p.Thr241Ile) rs774439487
NM_000199.5(SGSH):c.726C>T (p.Thr242=) rs1347877363
NM_000199.5(SGSH):c.734G>T (p.Arg245Leu) rs104894635
NM_000199.5(SGSH):c.736A>G (p.Met246Val)
NM_000199.5(SGSH):c.745G>A (p.Gly249Arg)
NM_000199.5(SGSH):c.746-5_746-4inv
NM_000199.5(SGSH):c.746-6C>G
NM_000199.5(SGSH):c.748G>T (p.Val250Phe) rs1481986186
NM_000199.5(SGSH):c.749T>A (p.Val250Asp) rs765180942
NM_000199.5(SGSH):c.751G>A (p.Gly251Arg)
NM_000199.5(SGSH):c.772C>G (p.Arg258Gly) rs1314742501
NM_000199.5(SGSH):c.772C>T (p.Arg258Cys)
NM_000199.5(SGSH):c.778G>A (p.Ala260Thr)
NM_000199.5(SGSH):c.784G>A (p.Val262Ile)
NM_000199.5(SGSH):c.793G>A (p.Asp265Asn) rs1350874932
NM_000199.5(SGSH):c.803T>C (p.Val268Ala)
NM_000199.5(SGSH):c.821A>G (p.Asn274Ser) rs2144716819
NM_000199.5(SGSH):c.823G>A (p.Gly275Arg) rs765361603
NM_000199.5(SGSH):c.828C>G (p.Ile276Met) rs2041694208
NM_000199.5(SGSH):c.841G>A (p.Gly281Ser)
NM_000199.5(SGSH):c.841G>T (p.Gly281Cys) rs541222703
NM_000199.5(SGSH):c.863C>T (p.Pro288Leu)
NM_000199.5(SGSH):c.87C>A (p.Leu29=)
NM_000199.5(SGSH):c.88+5G>C rs2144831735
NM_000199.5(SGSH):c.88G>A (p.Ala30Thr)
NM_000199.5(SGSH):c.88G>T (p.Ala30Ser)
NM_000199.5(SGSH):c.89-18_89-15del rs768357480
NM_000199.5(SGSH):c.899A>C (p.Glu300Ala)
NM_000199.5(SGSH):c.90G>A (p.Ala30=)
NM_000199.5(SGSH):c.910C>T (p.Arg304Cys)
NM_000199.5(SGSH):c.911G>A (p.Arg304His)
NM_000199.5(SGSH):c.911G>C (p.Arg304Pro)
NM_000199.5(SGSH):c.916G>T (p.Gly306Cys) rs1598742412
NM_000199.5(SGSH):c.927C>G (p.Ser309Arg) rs1385473515
NM_000199.5(SGSH):c.928G>A (p.Glu310Lys)
NM_000199.5(SGSH):c.932C>A (p.Ala311Asp) rs753934983
NM_000199.5(SGSH):c.935A>G (p.Tyr312Cys)
NM_000199.5(SGSH):c.935A>T (p.Tyr312Phe)
NM_000199.5(SGSH):c.937G>C (p.Val313Leu) rs769385447
NM_000199.5(SGSH):c.937_939dup (p.Val313dup) rs1555620723
NM_000199.5(SGSH):c.941G>A (p.Ser314Asn)
NM_000199.5(SGSH):c.949+4_949+5insA
NM_000199.5(SGSH):c.952C>A (p.Leu318Ile) rs747197522
NM_000199.5(SGSH):c.952C>T (p.Leu318Phe)
NM_000199.5(SGSH):c.956C>T (p.Thr319Met)
NM_000199.5(SGSH):c.961A>G (p.Thr321Ala) rs758756630
NM_000199.5(SGSH):c.962C>T (p.Thr321Ile) rs2144699541
NM_000199.5(SGSH):c.96C>A (p.Asp32Glu) rs139850991
NM_000199.5(SGSH):c.980C>T (p.Ser327Leu)
NM_000199.5(SGSH):c.981G>A (p.Ser327=) rs143223388

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