ClinVar Miner

List of variants in gene SGSH reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 494
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HGVS dbSNP gnomAD frequency
NM_000199.5(SGSH):c.89-45G>A rs9900509 0.11554
NM_000199.5(SGSH):c.89-39G>A rs9900502 0.10774
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254 0.07594
NM_000199.5(SGSH):c.950-183A>G rs74000618 0.02471
NM_000199.5(SGSH):c.249+52G>A rs113672699 0.02447
NM_000199.5(SGSH):c.746-140G>C rs112816244 0.01919
NM_000199.5(SGSH):c.949+92T>A rs9913131 0.01530
NM_000199.5(SGSH):c.663+87A>G rs74841027 0.01444
NM_000199.5(SGSH):c.664-127A>G rs181508522 0.01296
NM_000199.5(SGSH):c.*201A>T rs139066649 0.00913
NM_000199.5(SGSH):c.89-144C>T rs116726024 0.00778
NM_000199.5(SGSH):c.664-111G>A rs141802955 0.00709
NM_000199.5(SGSH):c.522C>T (p.Tyr174=) rs147064455 0.00595
NM_000199.5(SGSH):c.745+79C>T rs180932573 0.00451
NM_000199.5(SGSH):c.507-38G>A rs200492833 0.00435
NM_000199.5(SGSH):c.249+25G>T rs200104349 0.00345
NM_000199.5(SGSH):c.411G>A (p.Ala137=) rs142557761 0.00230
NM_000199.5(SGSH):c.1283G>A (p.Arg428His) rs144862290 0.00172
NM_000199.5(SGSH):c.1337A>G (p.His446Arg) rs148876719 0.00155
NM_000199.5(SGSH):c.641C>A (p.Ala214Asp) rs74000629 0.00143
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 0.00090
NM_000199.5(SGSH):c.1428C>T (p.His476=) rs139460639 0.00066
NM_000199.5(SGSH):c.324G>A (p.Pro108=) rs147938702 0.00057
NM_000199.5(SGSH):c.507-7C>T rs200965114 0.00053
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=) rs141153056 0.00050
NM_000199.5(SGSH):c.1209C>T (p.Tyr403=) rs115750405 0.00048
NM_000199.5(SGSH):c.1317C>T (p.Tyr439=) rs146522699 0.00042
NM_000199.5(SGSH):c.144G>A (p.Pro48=) rs145970971 0.00033
NM_000199.5(SGSH):c.89-4G>A rs375536965 0.00032
NM_000199.5(SGSH):c.999C>T (p.Tyr333=) rs149139346 0.00027
NM_000199.5(SGSH):c.1050G>A (p.Pro350=) rs373992449 0.00024
NM_000199.5(SGSH):c.663+20G>A rs773805076 0.00020
NM_000199.5(SGSH):c.570C>T (p.Tyr190=) rs149951602 0.00019
NM_000199.5(SGSH):c.526G>A (p.Ala176Thr) rs141533664 0.00013
NM_000199.5(SGSH):c.534C>T (p.His178=) rs139484283 0.00013
NM_000199.5(SGSH):c.663+13C>T rs760216365 0.00011
NM_000199.5(SGSH):c.250-15C>T rs369082713 0.00010
NM_000199.5(SGSH):c.417G>A (p.Thr139=) rs142729872 0.00010
NM_000199.5(SGSH):c.1062C>T (p.Ala354=) rs150750383 0.00009
NM_000199.5(SGSH):c.1328G>A (p.Arg443Gln) rs377605690 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.780C>T (p.Ala260=) rs530964770 0.00009
NM_000199.5(SGSH):c.1104C>T (p.His368=) rs111800668 0.00008
NM_000199.5(SGSH):c.155C>T (p.Ala52Val) rs758203457 0.00008
NM_000199.5(SGSH):c.355+11C>T rs529329090 0.00007
NM_000199.5(SGSH):c.720C>T (p.Tyr240=) rs367654527 0.00007
NM_000199.5(SGSH):c.840C>T (p.Ser280=) rs146904798 0.00007
NM_000199.5(SGSH):c.1302G>A (p.Ala434=) rs376787615 0.00006
NM_000199.5(SGSH):c.397C>A (p.Pro133Thr) rs199643693 0.00006
NM_000199.5(SGSH):c.410C>T (p.Ala137Val) rs367805575 0.00006
NM_000199.5(SGSH):c.432C>T (p.Ser144=) rs200194908 0.00006
NM_000199.5(SGSH):c.1210G>A (p.Val404Ile) rs191465934 0.00005
NM_000199.5(SGSH):c.1359C>T (p.Thr453=) rs751980056 0.00005
NM_000199.5(SGSH):c.1450G>A (p.Asp484Asn) rs190505648 0.00005
NM_000199.5(SGSH):c.163C>T (p.Arg55Cys) rs368650877 0.00005
NM_000199.5(SGSH):c.356-7C>T rs372328165 0.00005
NM_000199.5(SGSH):c.864G>A (p.Pro288=) rs573496328 0.00005
NM_000199.5(SGSH):c.950-16G>T rs182544870 0.00005
NM_000199.5(SGSH):c.950-88C>T rs1004885002 0.00005
NM_000199.5(SGSH):c.1134C>T (p.Ser378=) rs771257931 0.00004
NM_000199.5(SGSH):c.1253G>A (p.Gly418Asp) rs760618916 0.00004
NM_000199.5(SGSH):c.1263G>A (p.Thr421=) rs140931352 0.00004
NM_000199.5(SGSH):c.154G>A (p.Ala52Thr) rs551094331 0.00004
NM_000199.5(SGSH):c.375C>T (p.His125=) rs774482734 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.909A>G (p.Lys303=) rs746617014 0.00004
NM_000199.5(SGSH):c.1068C>G (p.Pro356=) rs2144696905 0.00003
NM_000199.5(SGSH):c.117G>A (p.Ala39=) rs201132655 0.00003
NM_000199.5(SGSH):c.1197C>T (p.Asp399=) rs371397297 0.00003
NM_000199.5(SGSH):c.1365G>A (p.Pro455=) rs750709138 0.00003
NM_000199.5(SGSH):c.249+17G>A rs376289127 0.00003
NM_000199.5(SGSH):c.250-10T>C rs771639203 0.00003
NM_000199.5(SGSH):c.314G>A (p.Arg105Gln) rs375058146 0.00003
NM_000199.5(SGSH):c.663+7C>T rs372662337 0.00003
NM_000199.5(SGSH):c.663+8G>A rs773765512 0.00003
NM_000199.5(SGSH):c.88+9C>G rs750932804 0.00003
NM_000199.5(SGSH):c.90G>A (p.Ala30=) rs549213151 0.00003
NM_000199.5(SGSH):c.987G>A (p.Pro329=) rs752176531 0.00003
NM_000199.5(SGSH):c.1035C>T (p.Gly345=) rs748069998 0.00002
NM_000199.5(SGSH):c.1053G>A (p.Ala351=) rs757723989 0.00002
NM_000199.5(SGSH):c.1089C>T (p.Gly363=) rs367631292 0.00002
NM_000199.5(SGSH):c.1194C>T (p.Ile398=) rs759758209 0.00002
NM_000199.5(SGSH):c.135C>T (p.Ile45=) rs775770560 0.00002
NM_000199.5(SGSH):c.1371T>C (p.Phe457=) rs867660906 0.00002
NM_000199.5(SGSH):c.1440G>A (p.Val480=) rs769459888 0.00002
NM_000199.5(SGSH):c.153C>T (p.Asp51=) rs372226239 0.00002
NM_000199.5(SGSH):c.249+16C>T rs575584322 0.00002
NM_000199.5(SGSH):c.249+19G>A rs372274963 0.00002
NM_000199.5(SGSH):c.355+12G>A rs376088400 0.00002
NM_000199.5(SGSH):c.37C>T (p.Leu13=) rs1412578109 0.00002
NM_000199.5(SGSH):c.384G>A (p.Pro128=) rs770944273 0.00002
NM_000199.5(SGSH):c.399G>A (p.Pro133=) rs752056541 0.00002
NM_000199.5(SGSH):c.537C>T (p.Asp179=) rs771440037 0.00002
NM_000199.5(SGSH):c.564C>T (p.Pro188=) rs1378805024 0.00002
NM_000199.5(SGSH):c.645C>T (p.Tyr215=) rs151227799 0.00002
NM_000199.5(SGSH):c.657C>T (p.Asp219=) rs756315850 0.00002
NM_000199.5(SGSH):c.727G>A (p.Val243Ile) rs770944322 0.00002
NM_000199.5(SGSH):c.745+17G>A rs778580350 0.00002
NM_000199.5(SGSH):c.746-13C>T rs565605266 0.00002
NM_000199.5(SGSH):c.897G>A (p.Pro299=) rs147061152 0.00002
NM_000199.5(SGSH):c.950-11G>A rs374872971 0.00002
NM_000199.5(SGSH):c.950-13G>A rs568262258 0.00002
NM_000199.5(SGSH):c.950-14C>T rs770050710 0.00002
NM_000199.5(SGSH):c.1038G>A (p.Arg346=) rs747259484 0.00001
NM_000199.5(SGSH):c.1080C>T (p.Thr360=) rs766102096 0.00001
NM_000199.5(SGSH):c.114C>T (p.Gly38=) rs2041924510 0.00001
NM_000199.5(SGSH):c.1154G>A (p.Arg385His) rs944844493 0.00001
NM_000199.5(SGSH):c.1158C>T (p.Leu386=) rs765011477 0.00001
NM_000199.5(SGSH):c.1176C>T (p.Phe392=) rs1286662072 0.00001
NM_000199.5(SGSH):c.1185C>T (p.Pro395=) rs1249459941 0.00001
NM_000199.5(SGSH):c.1218C>T (p.Pro406=) rs770446973 0.00001
NM_000199.5(SGSH):c.129C>T (p.Ser43=) rs747247188 0.00001
NM_000199.5(SGSH):c.1311G>A (p.Glu437=) rs995838952 0.00001
NM_000199.5(SGSH):c.1323G>C (p.Arg441=) rs202209795 0.00001
NM_000199.5(SGSH):c.1356C>T (p.Ala452=) rs2041601835 0.00001
NM_000199.5(SGSH):c.1394G>A (p.Arg465Gln) rs1294240905 0.00001
NM_000199.5(SGSH):c.1404G>A (p.Leu468=) rs368952369 0.00001
NM_000199.5(SGSH):c.1443C>T (p.Cys481=) rs747742566 0.00001
NM_000199.5(SGSH):c.1452C>T (p.Asp484=) rs763360021 0.00001
NM_000199.5(SGSH):c.1455C>T (p.Gly485=) rs757563981 0.00001
NM_000199.5(SGSH):c.1458C>T (p.Val486=) rs1458442935 0.00001
NM_000199.5(SGSH):c.1473C>T (p.Leu491=) rs1436483872 0.00001
NM_000199.5(SGSH):c.1500T>C (p.Asn500=) rs771923742 0.00001
NM_000199.5(SGSH):c.183C>T (p.Arg61=) rs561475181 0.00001
NM_000199.5(SGSH):c.189C>G (p.Ala63=) rs760006618 0.00001
NM_000199.5(SGSH):c.222C>T (p.Arg74=) rs768056322 0.00001
NM_000199.5(SGSH):c.241C>T (p.Leu81=) rs778730409 0.00001
NM_000199.5(SGSH):c.243G>T (p.Leu81=) rs543297521 0.00001
NM_000199.5(SGSH):c.249+10A>G rs1313307206 0.00001
NM_000199.5(SGSH):c.249+15G>A rs941020879 0.00001
NM_000199.5(SGSH):c.249+24G>A rs1005670525 0.00001
NM_000199.5(SGSH):c.250-13C>T rs1374733070 0.00001
NM_000199.5(SGSH):c.250-14G>A rs777111086 0.00001
NM_000199.5(SGSH):c.250-17T>C rs765488698 0.00001
NM_000199.5(SGSH):c.258T>C (p.Asn86=) rs1425717342 0.00001
NM_000199.5(SGSH):c.267C>T (p.Tyr89=) rs1479456289 0.00001
NM_000199.5(SGSH):c.288C>T (p.His96=) rs1284139181 0.00001
NM_000199.5(SGSH):c.330G>A (p.Leu110=) rs547771707 0.00001
NM_000199.5(SGSH):c.336C>T (p.Ser112=) rs1001481135 0.00001
NM_000199.5(SGSH):c.351C>T (p.Arg117=) rs747892803 0.00001
NM_000199.5(SGSH):c.355+16C>T rs144837789 0.00001
NM_000199.5(SGSH):c.355+17G>A rs757635282 0.00001
NM_000199.5(SGSH):c.355+9C>T rs746912493 0.00001
NM_000199.5(SGSH):c.356-12C>A rs111239087 0.00001
NM_000199.5(SGSH):c.356-6G>A rs764808311 0.00001
NM_000199.5(SGSH):c.363C>T (p.Ile121=) rs2041824137 0.00001
NM_000199.5(SGSH):c.36G>C (p.Leu12=) rs777433840 0.00001
NM_000199.5(SGSH):c.45G>T (p.Leu15=) rs1212465344 0.00001
NM_000199.5(SGSH):c.486C>T (p.Phe162=) rs371061954 0.00001
NM_000199.5(SGSH):c.506+10G>A rs549782167 0.00001
NM_000199.5(SGSH):c.506+14C>G rs768967935 0.00001
NM_000199.5(SGSH):c.507-10T>G rs780750001 0.00001
NM_000199.5(SGSH):c.507-10del rs756440573 0.00001
NM_000199.5(SGSH):c.507-12C>T rs1289986385 0.00001
NM_000199.5(SGSH):c.507-14C>T rs747675274 0.00001
NM_000199.5(SGSH):c.507-6G>A rs751165124 0.00001
NM_000199.5(SGSH):c.525C>T (p.Val175=) rs1035928326 0.00001
NM_000199.5(SGSH):c.555C>T (p.His185=) rs1224820918 0.00001
NM_000199.5(SGSH):c.558C>T (p.Ser186=) rs992564098 0.00001
NM_000199.5(SGSH):c.597C>T (p.Asn199=) rs753030382 0.00001
NM_000199.5(SGSH):c.606C>T (p.Ser202=) rs544509805 0.00001
NM_000199.5(SGSH):c.663+9G>T rs765710634 0.00001
NM_000199.5(SGSH):c.664-10C>T rs776319554 0.00001
NM_000199.5(SGSH):c.664-12C>T rs750158313 0.00001
NM_000199.5(SGSH):c.664-13C>T rs368107414 0.00001
NM_000199.5(SGSH):c.664-19T>C rs1389297197 0.00001
NM_000199.5(SGSH):c.681C>A (p.Pro227=) rs2041774244 0.00001
NM_000199.5(SGSH):c.684C>T (p.Asn228=) rs562717448 0.00001
NM_000199.5(SGSH):c.702C>T (p.Ala234=) rs1488422969 0.00001
NM_000199.5(SGSH):c.711C>T (p.Ala237=) rs1288219418 0.00001
NM_000199.5(SGSH):c.729C>T (p.Val243=) rs17854435 0.00001
NM_000199.5(SGSH):c.745+11A>G rs1448016581 0.00001
NM_000199.5(SGSH):c.745+15C>A rs2041768932 0.00001
NM_000199.5(SGSH):c.745+16C>T rs747468287 0.00001
NM_000199.5(SGSH):c.745+9G>A rs559165082 0.00001
NM_000199.5(SGSH):c.75A>C (p.Ala25=) rs1262969566 0.00001
NM_000199.5(SGSH):c.777C>T (p.Asp259=) rs761104676 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.816C>T (p.Ser272=) rs200485062 0.00001
NM_000199.5(SGSH):c.822C>T (p.Asn274=) rs138927823 0.00001
NM_000199.5(SGSH):c.855G>C (p.Leu285=) rs377285325 0.00001
NM_000199.5(SGSH):c.873T>C (p.Ala291=) rs940286213 0.00001
NM_000199.5(SGSH):c.88+18C>T rs932580717 0.00001
NM_000199.5(SGSH):c.88+8C>T rs75720127 0.00001
NM_000199.5(SGSH):c.89-16C>G rs1038460314 0.00001
NM_000199.5(SGSH):c.89-16C>T rs1038460314 0.00001
NM_000199.5(SGSH):c.89-19T>C rs758816625 0.00001
NM_000199.5(SGSH):c.89-5C>T rs755694982 0.00001
NM_000199.5(SGSH):c.933C>T (p.Ala311=) rs777957953 0.00001
NM_000199.5(SGSH):c.936C>T (p.Tyr312=) rs147716878 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.949+20C>T rs539024687 0.00001
NM_000199.5(SGSH):c.949+7C>T rs1358532856 0.00001
NM_000199.5(SGSH):c.950-12C>T rs1334931070 0.00001
NM_000199.5(SGSH):c.957G>A (p.Thr319=) rs780403434 0.00001
NM_000199.5(SGSH):c.96C>T (p.Asp32=) rs139850991 0.00001
NM_000199.5(SGSH):c.993C>T (p.Pro331=) rs934982826 0.00001
NM_000199.5(SGSH):c.996C>T (p.Ser332=) rs1452808824 0.00001
NM_000199.5(SGSH):c.1005C>T (p.Ile335=) rs2144698554
NM_000199.5(SGSH):c.1008T>C (p.Phe336=) rs2144698448
NM_000199.5(SGSH):c.1011C>T (p.Gly337=) rs2510861640
NM_000199.5(SGSH):c.1014G>A (p.Ser338=) rs1329179099
NM_000199.5(SGSH):c.1014G>T (p.Ser338=) rs1329179099
NM_000199.5(SGSH):c.1020C>T (p.Thr340=) rs2510861479
NM_000199.5(SGSH):c.102C>G (p.Gly34=) rs2510910411
NM_000199.5(SGSH):c.1036C>A (p.Arg346=) rs139918604
NM_000199.5(SGSH):c.1041C>A (p.Ser347=) rs2510861155
NM_000199.5(SGSH):c.1053G>C (p.Ala351=) rs757723989
NM_000199.5(SGSH):c.1059G>A (p.Glu353=) rs1193208031
NM_000199.5(SGSH):c.1062C>A (p.Ala354=) rs150750383
NM_000199.5(SGSH):c.1062C>G (p.Ala354=) rs150750383
NM_000199.5(SGSH):c.1068C>T (p.Pro356=) rs2144696905
NM_000199.5(SGSH):c.1080C>A (p.Thr360=) rs766102096
NM_000199.5(SGSH):c.1083C>G (p.Val361=) rs1163683351
NM_000199.5(SGSH):c.108G>A (p.Glu36=) rs2510910393
NM_000199.5(SGSH):c.1095G>A (p.Gln365=) rs1567915786
NM_000199.5(SGSH):c.1098C>T (p.Ser366=) rs1344726489
NM_000199.5(SGSH):c.1110C>A (p.Val370=) rs2510859989
NM_000199.5(SGSH):c.1110C>T (p.Val370=) rs2510859989
NM_000199.5(SGSH):c.1122C>T (p.Tyr374=) rs760719845
NM_000199.5(SGSH):c.1125C>T (p.Pro375=) rs2510859726
NM_000199.5(SGSH):c.1131C>T (p.Arg377=) rs779260016
NM_000199.5(SGSH):c.1140G>A (p.Gln380=) rs2144695233
NM_000199.5(SGSH):c.1149C>T (p.His383=) rs1312597739
NM_000199.5(SGSH):c.1152C>T (p.Phe384=) rs1430777905
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000199.5(SGSH):c.117G>T (p.Ala39=) rs201132655
NM_000199.5(SGSH):c.1185C>G (p.Pro395=) rs1249459941
NM_000199.5(SGSH):c.1203C>T (p.Asp401=)
NM_000199.5(SGSH):c.120C>T (p.Tyr40=) rs562933313
NM_000199.5(SGSH):c.1215A>C (p.Ser405=) rs1352657640
NM_000199.5(SGSH):c.1221C>T (p.Thr407=) rs1598738043
NM_000199.5(SGSH):c.1233C>T (p.Leu411=) rs2510858168
NM_000199.5(SGSH):c.1251T>C (p.Ala417=) rs2144692797
NM_000199.5(SGSH):c.1263G>C (p.Thr421=) rs140931352
NM_000199.5(SGSH):c.126C>T (p.Asn42=) rs2510910255
NM_000199.5(SGSH):c.1278C>T (p.Asp426=) rs1374242628
NM_000199.5(SGSH):c.1284T>C (p.Arg428=) rs2510857568
NM_000199.5(SGSH):c.1299G>A (p.Arg433=) rs2510857234
NM_000199.5(SGSH):c.1305C>T (p.Arg435=) rs1022503038
NM_000199.5(SGSH):c.1320C>T (p.Asp440=) rs751683275
NM_000199.5(SGSH):c.1323G>A (p.Arg441=) rs202209795
NM_000199.5(SGSH):c.1332C>T (p.Asp444=) rs767871704
NM_000199.5(SGSH):c.1338C>T (p.His446=) rs762208419
NM_000199.5(SGSH):c.1341G>A (p.Glu447=) rs2510856542
NM_000199.5(SGSH):c.1344C>T (p.Thr448=) rs2510856507
NM_000199.5(SGSH):c.1356C>A (p.Ala452=) rs2041601835
NM_000199.5(SGSH):c.135C>A (p.Ile45=) rs775770560
NM_000199.5(SGSH):c.1374T>C (p.Ala458=) rs2510856075
NM_000199.5(SGSH):c.1380T>A (p.Leu460=) rs1298944219
NM_000199.5(SGSH):c.1383G>A (p.Leu461=) rs2144689720
NM_000199.5(SGSH):c.1386G>A (p.Glu462=) rs2144689644
NM_000199.5(SGSH):c.1395G>A (p.Arg465=) rs764491308
NM_000199.5(SGSH):c.1395G>C (p.Arg465=) rs764491308
NM_000199.5(SGSH):c.1410G>A (p.Lys470=) rs977948935
NM_000199.5(SGSH):c.141C>A (p.Thr47=) rs2510910112
NM_000199.5(SGSH):c.1422G>A (p.Glu474=) rs2510855530
NM_000199.5(SGSH):c.1425C>A (p.Thr475=) rs775855154
NM_000199.5(SGSH):c.1425C>G (p.Thr475=) rs775855154
NM_000199.5(SGSH):c.1431C>T (p.Asp477=) rs2510855421
NM_000199.5(SGSH):c.1434C>A (p.Pro478=) rs762345260
NM_000199.5(SGSH):c.1434C>T (p.Pro478=) rs762345260
NM_000199.5(SGSH):c.1440G>T (p.Val480=) rs769459888
NM_000199.5(SGSH):c.1449C>T (p.Pro483=) rs779836312
NM_000199.5(SGSH):c.144G>T (p.Pro48=) rs145970971
NM_000199.5(SGSH):c.1458C>A (p.Val486=) rs1458442935
NM_000199.5(SGSH):c.1467G>A (p.Glu489=) rs2144687765
NM_000199.5(SGSH):c.1470G>A (p.Lys490=) rs2041593499
NM_000199.5(SGSH):c.1473C>G (p.Leu491=) rs1436483872
NM_000199.5(SGSH):c.1476T>C (p.Ser492=) rs769228670
NM_000199.5(SGSH):c.1491C>T (p.Pro497=) rs2510854490
NM_000199.5(SGSH):c.1494C>T (p.Leu498=)
NM_000199.5(SGSH):c.1503G>A (p.Glu501=) rs2510854344
NM_000199.5(SGSH):c.168C>G (p.Arg56=) rs2510909758
NM_000199.5(SGSH):c.174C>T (p.Leu58=) rs1278899264
NM_000199.5(SGSH):c.177C>G (p.Leu59=) rs1567928148
NM_000199.5(SGSH):c.177C>T (p.Leu59=)
NM_000199.5(SGSH):c.180T>C (p.Phe60=) rs2144781750
NM_000199.5(SGSH):c.183C>G (p.Arg61=) rs561475181
NM_000199.5(SGSH):c.189C>T (p.Ala63=) rs760006618
NM_000199.5(SGSH):c.192C>T (p.Phe64=) rs2041920000
NM_000199.5(SGSH):c.195C>G (p.Thr65=) rs2144781531
NM_000199.5(SGSH):c.195C>T (p.Thr65=) rs2144781531
NM_000199.5(SGSH):c.198G>A (p.Ser66=) rs771397375
NM_000199.5(SGSH):c.198G>C (p.Ser66=) rs771397375
NM_000199.5(SGSH):c.198G>T (p.Ser66=) rs771397375
NM_000199.5(SGSH):c.210C>T (p.Cys70=) rs2144781434
NM_000199.5(SGSH):c.21C>G (p.Ala7=) rs1283206682
NM_000199.5(SGSH):c.21C>T (p.Ala7=)
NM_000199.5(SGSH):c.222C>A (p.Arg74=) rs768056322
NM_000199.5(SGSH):c.225C>T (p.Ala75=) rs1283413030
NM_000199.5(SGSH):c.237T>C (p.Thr79=) rs758007069
NM_000199.5(SGSH):c.246C>G (p.Pro82=) rs865991192
NM_000199.5(SGSH):c.249+11A>G
NM_000199.5(SGSH):c.249+14G>A rs1253526533
NM_000199.5(SGSH):c.249+14G>T rs1253526533
NM_000199.5(SGSH):c.249+15G>T rs941020879
NM_000199.5(SGSH):c.249+18G>A rs1395138376
NM_000199.5(SGSH):c.249+19G>T rs372274963
NM_000199.5(SGSH):c.249+26G>T
NM_000199.5(SGSH):c.249+28G>A rs2041915058
NM_000199.5(SGSH):c.249+8G>A rs2510908995
NM_000199.5(SGSH):c.24C>T (p.Cys8=) rs2144833062
NM_000199.5(SGSH):c.250-15C>G rs369082713
NM_000199.5(SGSH):c.250-19C>T
NM_000199.5(SGSH):c.250-5G>C
NM_000199.5(SGSH):c.250-7C>T rs2510898713
NM_000199.5(SGSH):c.250-8G>T rs1043560351
NM_000199.5(SGSH):c.261G>A (p.Gly87=) rs2510898611
NM_000199.5(SGSH):c.270G>A (p.Gly90=) rs2510898546
NM_000199.5(SGSH):c.273G>A (p.Leu91=) rs2144755014
NM_000199.5(SGSH):c.273G>C (p.Leu91=)
NM_000199.5(SGSH):c.276C>T (p.His92=) rs201478799
NM_000199.5(SGSH):c.282C>T (p.Asp94=) rs748857638
NM_000199.5(SGSH):c.300C>A (p.Ser100=) rs2510898224
NM_000199.5(SGSH):c.30_31delinsTT (p.Ala10_Leu11=) rs2144832917
NM_000199.5(SGSH):c.31C>T (p.Leu11=) rs1052938582
NM_000199.5(SGSH):c.321G>A (p.Leu107=) rs2510898016
NM_000199.5(SGSH):c.333C>T (p.Leu111=) rs2510897894
NM_000199.5(SGSH):c.345T>C (p.Gly115=) rs920720873
NM_000199.5(SGSH):c.345T>G (p.Gly115=) rs920720873
NM_000199.5(SGSH):c.348G>A (p.Val116=) rs1242737193
NM_000199.5(SGSH):c.355+16C>G rs144837789
NM_000199.5(SGSH):c.355+20G>A rs2510897547
NM_000199.5(SGSH):c.356-12C>T rs111239087
NM_000199.5(SGSH):c.356-14C>G rs2510894654
NM_000199.5(SGSH):c.356-14del rs2510894684
NM_000199.5(SGSH):c.356-16CT[2] rs2510894599
NM_000199.5(SGSH):c.356-18G>A rs2510894764
NM_000199.5(SGSH):c.356-18G>T rs2510894764
NM_000199.5(SGSH):c.356-19G>C
NM_000199.5(SGSH):c.356-5C>T rs1240953762
NM_000199.5(SGSH):c.357C>T (p.Gly119=) rs2510894472
NM_000199.5(SGSH):c.360C>T (p.Ile120=) rs1314987469
NM_000199.5(SGSH):c.372G>A (p.Lys124=) rs2510894362
NM_000199.5(SGSH):c.378G>A (p.Val126=) rs771878830
NM_000199.5(SGSH):c.378G>T (p.Val126=) rs771878830
NM_000199.5(SGSH):c.381G>A (p.Gly127=) rs2144749895
NM_000199.5(SGSH):c.390C>G (p.Thr130=) rs111761143
NM_000199.5(SGSH):c.399G>C (p.Pro133=) rs752056541
NM_000199.5(SGSH):c.39A>G (p.Leu13=) rs2144832681
NM_000199.5(SGSH):c.408T>C (p.Phe136=) rs2510894064
NM_000199.5(SGSH):c.411G>C (p.Ala137=) rs142557761
NM_000199.5(SGSH):c.414C>T (p.Tyr138=) rs2041820947
NM_000199.5(SGSH):c.417G>C (p.Thr139=) rs142729872
NM_000199.5(SGSH):c.42C>T (p.Val14=) rs1598772270
NM_000199.5(SGSH):c.435C>A (p.Val145=) rs2144749023
NM_000199.5(SGSH):c.435C>T (p.Val145=) rs2144749023
NM_000199.5(SGSH):c.450G>A (p.Arg150=)
NM_000199.5(SGSH):c.459T>C (p.Thr153=) rs755311312
NM_000199.5(SGSH):c.471G>A (p.Leu157=)
NM_000199.5(SGSH):c.474C>G (p.Leu158=) rs75828254
NM_000199.5(SGSH):c.474C>T (p.Leu158=) rs75828254
NM_000199.5(SGSH):c.477C>G (p.Val159=) rs2510893656
NM_000199.5(SGSH):c.480G>T (p.Arg160=) rs2144748453
NM_000199.5(SGSH):c.483A>G (p.Lys161=) rs2144748407
NM_000199.5(SGSH):c.48G>A (p.Gly16=) rs925785551
NM_000199.5(SGSH):c.48G>C (p.Gly16=) rs925785551
NM_000199.5(SGSH):c.495T>G (p.Thr165=) rs1385540722
NM_000199.5(SGSH):c.506+10G>C rs549782167
NM_000199.5(SGSH):c.506+11G>A rs2041815699
NM_000199.5(SGSH):c.506+12G>A rs2144747927
NM_000199.5(SGSH):c.506+13G>A rs201177560
NM_000199.5(SGSH):c.506+13G>T rs201177560
NM_000199.5(SGSH):c.506+14C>A rs768967935
NM_000199.5(SGSH):c.506+14C>T rs768967935
NM_000199.5(SGSH):c.506+15C>T
NM_000199.5(SGSH):c.506+16C>T rs2041815351
NM_000199.5(SGSH):c.506+18T>C rs2041815243
NM_000199.5(SGSH):c.506+7G>T rs2144748073
NM_000199.5(SGSH):c.506+9C>G rs376523398
NM_000199.5(SGSH):c.507-14C>A rs747675274
NM_000199.5(SGSH):c.507-15C>A rs1172713493
NM_000199.5(SGSH):c.507-18G>A rs2041803667
NM_000199.5(SGSH):c.507-20A>G
NM_000199.5(SGSH):c.507-6G>T
NM_000199.5(SGSH):c.519C>T (p.Leu173=) rs750394348
NM_000199.5(SGSH):c.528C>T (p.Ala176=) rs775792252
NM_000199.5(SGSH):c.540C>A (p.Pro180=) rs749721134
NM_000199.5(SGSH):c.540C>G (p.Pro180=) rs749721134
NM_000199.5(SGSH):c.564C>G (p.Pro188=) rs1378805024
NM_000199.5(SGSH):c.57G>A (p.Arg19=) rs2510930261
NM_000199.5(SGSH):c.591T>C (p.Phe197=) rs2510890536
NM_000199.5(SGSH):c.633C>G (p.Thr211=) rs187147954
NM_000199.5(SGSH):c.633C>T (p.Thr211=) rs187147954
NM_000199.5(SGSH):c.636C>G (p.Pro212=) rs771680187
NM_000199.5(SGSH):c.648C>T (p.Asp216=) rs2144742092
NM_000199.5(SGSH):c.654G>A (p.Leu218=) rs2510890058
NM_000199.5(SGSH):c.658G>T (p.Val220Leu) rs150508741
NM_000199.5(SGSH):c.660G>A (p.Val220=) rs1168963563
NM_000199.5(SGSH):c.660G>C (p.Val220=) rs1168963563
NM_000199.5(SGSH):c.663+10C>T rs2144741673
NM_000199.5(SGSH):c.663+15C>T
NM_000199.5(SGSH):c.663+17T>G rs6565647
NM_000199.5(SGSH):c.663+17_663+18inv
NM_000199.5(SGSH):c.664-11G>A rs761740352
NM_000199.5(SGSH):c.664-15C>T rs1247545408
NM_000199.5(SGSH):c.664-20C>G rs2510887107
NM_000199.5(SGSH):c.664-39_664-38del rs34029730
NM_000199.5(SGSH):c.664-4C>A rs1197427868
NM_000199.5(SGSH):c.664-4C>G rs1197427868
NM_000199.5(SGSH):c.664-4C>T rs1197427868
NM_000199.5(SGSH):c.664-7G>A rs2144736499
NM_000199.5(SGSH):c.666G>A (p.Val222=) rs2144736428
NM_000199.5(SGSH):c.66C>G (p.Pro22=) rs2042100337
NM_000199.5(SGSH):c.672C>T (p.Tyr224=) rs2144736338
NM_000199.5(SGSH):c.681C>T (p.Pro227=) rs2041774244
NM_000199.5(SGSH):c.687C>A (p.Thr229=) rs778017231
NM_000199.5(SGSH):c.690G>A (p.Pro230=) rs781715169
NM_000199.5(SGSH):c.696C>G (p.Ala232=) rs2041773138
NM_000199.5(SGSH):c.699A>C (p.Arg233=) rs1361941081
NM_000199.5(SGSH):c.69G>A (p.Arg23=) rs2510930099
NM_000199.5(SGSH):c.702C>A (p.Ala234=) rs1488422969
NM_000199.5(SGSH):c.711C>A (p.Ala237=) rs1288219418
NM_000199.5(SGSH):c.714T>C (p.Ala238=) rs2510886393
NM_000199.5(SGSH):c.723C>G (p.Thr241=) rs1438215615
NM_000199.5(SGSH):c.726C>A (p.Thr242=) rs1347877363
NM_000199.5(SGSH):c.726C>G (p.Thr242=)
NM_000199.5(SGSH):c.732C>A (p.Gly244=) rs1161386511
NM_000199.5(SGSH):c.745+10C>T rs1198637462
NM_000199.5(SGSH):c.745+13A>T
NM_000199.5(SGSH):c.745+18G>A rs2510885995
NM_000199.5(SGSH):c.745+19G>A rs951397766
NM_000199.5(SGSH):c.745+20C>T rs2510885957
NM_000199.5(SGSH):c.746-11C>T rs2510874646
NM_000199.5(SGSH):c.746-11_746-10del rs2510874628
NM_000199.5(SGSH):c.746-12C>G rs2510874651
NM_000199.5(SGSH):c.746-13C>A rs565605266
NM_000199.5(SGSH):c.746-15G>C
NM_000199.5(SGSH):c.746-18C>G rs2041699655
NM_000199.5(SGSH):c.746-18C>T rs2041699655
NM_000199.5(SGSH):c.746-20T>C rs2041699759
NM_000199.5(SGSH):c.746-5C>T rs1449319213
NM_000199.5(SGSH):c.746-9T>C rs766281885
NM_000199.5(SGSH):c.750T>C (p.Val250=) rs2510874460
NM_000199.5(SGSH):c.756G>C (p.Leu252=) rs2510874402
NM_000199.5(SGSH):c.759G>A (p.Val253=) rs2041697973
NM_000199.5(SGSH):c.759G>C (p.Val253=) rs2041697973
NM_000199.5(SGSH):c.75A>G (p.Ala25=) rs1262969566
NM_000199.5(SGSH):c.771G>A (p.Leu257=) rs1015384934
NM_000199.5(SGSH):c.783T>C (p.Gly261=) rs2510874228
NM_000199.5(SGSH):c.799C>T (p.Leu267=) rs1182273458
NM_000199.5(SGSH):c.816C>G (p.Ser272=) rs200485062
NM_000199.5(SGSH):c.849C>A (p.Thr283=) rs2041693602
NM_000199.5(SGSH):c.849C>T (p.Thr283=) rs2041693602
NM_000199.5(SGSH):c.84C>A (p.Leu28=) rs1219782774
NM_000199.5(SGSH):c.84C>T (p.Leu28=) rs1219782774
NM_000199.5(SGSH):c.852C>T (p.Asn284=) rs1295667096
NM_000199.5(SGSH):c.853C>T (p.Leu285=) rs2510873705
NM_000199.5(SGSH):c.858C>T (p.Tyr286=) rs767718910
NM_000199.5(SGSH):c.870T>G (p.Thr290=) rs2510873553
NM_000199.5(SGSH):c.876A>G (p.Glu292=) rs2144716396
NM_000199.5(SGSH):c.879C>G (p.Pro293=) rs2144716366
NM_000199.5(SGSH):c.88+10G>A rs2042098570
NM_000199.5(SGSH):c.88+13G>A rs2042098398
NM_000199.5(SGSH):c.88+14C>T rs2144831422
NM_000199.5(SGSH):c.88+16G>A rs2510929615
NM_000199.5(SGSH):c.88+17C>A rs1304234624
NM_000199.5(SGSH):c.88+23C>G rs77032342
NM_000199.5(SGSH):c.880T>C (p.Leu294=) rs2510873473
NM_000199.5(SGSH):c.885G>T (p.Leu295=) rs2510873451
NM_000199.5(SGSH):c.888G>A (p.Val296=) rs1598742505
NM_000199.5(SGSH):c.89-12C>T rs1309535525
NM_000199.5(SGSH):c.89-17T>A rs2041926405
NM_000199.5(SGSH):c.89-18G>C
NM_000199.5(SGSH):c.89-18_89-15del rs768357480
NM_000199.5(SGSH):c.89-24CT[2] rs1467638240
NM_000199.5(SGSH):c.89-8T>G rs2144783199
NM_000199.5(SGSH):c.89-9C>G rs1333750382
NM_000199.5(SGSH):c.89-9C>T rs1333750382
NM_000199.5(SGSH):c.897G>T (p.Pro299=) rs147061152
NM_000199.5(SGSH):c.924C>G (p.Val308=) rs2144715938
NM_000199.5(SGSH):c.924C>T (p.Val308=) rs2144715938
NM_000199.5(SGSH):c.930G>A (p.Glu310=) rs2144715838
NM_000199.5(SGSH):c.946C>T (p.Leu316=) rs2041689069
NM_000199.5(SGSH):c.949+10T>C rs2041688460
NM_000199.5(SGSH):c.949+12T>A rs2510872859
NM_000199.5(SGSH):c.949+13_949+14del rs2510872832
NM_000199.5(SGSH):c.949+15_949+18del rs771786259
NM_000199.5(SGSH):c.949+18T>C rs2510872787
NM_000199.5(SGSH):c.949+9T>G rs2510872907
NM_000199.5(SGSH):c.949+9_949+10del rs2510872894
NM_000199.5(SGSH):c.950-9C>G rs2041634619
NM_000199.5(SGSH):c.950-9C>T rs2041634619
NM_000199.5(SGSH):c.978C>T (p.Phe326=) rs1232600599
NM_000199.5(SGSH):c.981G>A (p.Ser327=) rs143223388
NM_000199.5(SGSH):c.990C>T (p.Tyr330=) rs2510862006

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