ClinVar Miner

List of variants in gene SGSH reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 437
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000199.5(SGSH):c.1337A>G (p.His446Arg) rs148876719 0.00172
NM_000199.5(SGSH):c.641C>A (p.Ala214Asp) rs74000629 0.00143
NM_000199.5(SGSH):c.181C>T (p.Arg61Cys) rs142309764 0.00103
NM_000199.5(SGSH):c.324G>A (p.Pro108=) rs147938702 0.00060
NM_000199.5(SGSH):c.507-7C>T rs200965114 0.00056
NM_000199.5(SGSH):c.1209C>T (p.Tyr403=) rs115750405 0.00053
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.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.1050G>A (p.Pro350=) rs373992449 0.00023
NM_000199.5(SGSH):c.570C>T (p.Tyr190=) rs149951602 0.00019
NM_000199.5(SGSH):c.534C>T (p.His178=) rs139484283 0.00012
NM_000199.5(SGSH):c.663+13C>T rs760216365 0.00011
NM_000199.5(SGSH):c.1062C>T (p.Ala354=) rs150750383 0.00010
NM_000199.5(SGSH):c.250-15C>T rs369082713 0.00010
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.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.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.840C>T (p.Ser280=) rs146904798 0.00006
NM_000199.5(SGSH):c.1359C>T (p.Thr453=) rs751980056 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.356-7C>T rs372328165 0.00004
NM_000199.5(SGSH):c.375C>T (p.His125=) rs774482734 0.00004
NM_000199.5(SGSH):c.663+7C>T rs372662337 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.950-13G>A rs568262258 0.00004
NM_000199.5(SGSH):c.950-16G>T rs182544870 0.00004
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.250-10T>C rs771639203 0.00003
NM_000199.5(SGSH):c.745+9G>A rs559165082 0.00003
NM_000199.5(SGSH):c.88+9C>G rs750932804 0.00003
NM_000199.5(SGSH):c.936C>T (p.Tyr312=) rs147716878 0.00003
NM_000199.5(SGSH):c.987G>A (p.Pro329=) rs752176531 0.00003
NM_000199.5(SGSH):c.1053G>A (p.Ala351=) rs757723989 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.399G>A (p.Pro133=) rs752056541 0.00002
NM_000199.5(SGSH):c.506+10G>A rs549782167 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.657C>T (p.Asp219=) rs756315850 0.00002
NM_000199.5(SGSH):c.663+8G>A rs773765512 0.00002
NM_000199.5(SGSH):c.745+17G>A rs778580350 0.00002
NM_000199.5(SGSH):c.950-11G>A rs374872971 0.00002
NM_000199.5(SGSH):c.1035C>T (p.Gly345=) rs748069998 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.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.1210G>A (p.Val404Ile) rs191465934 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.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.1500T>C (p.Asn500=) rs771923742 0.00001
NM_000199.5(SGSH):c.189C>G (p.Ala63=) rs760006618 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.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.330G>A (p.Leu110=) rs547771707 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.384G>A (p.Pro128=) rs770944273 0.00001
NM_000199.5(SGSH):c.486C>T (p.Phe162=) rs371061954 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.507-6G>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.645C>T (p.Tyr215=) rs151227799 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.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+16C>T rs747468287 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.864G>A (p.Pro288=) rs573496328 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.89-5C>T rs755694982 0.00001
NM_000199.5(SGSH):c.933C>T (p.Ala311=) rs777957953 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=)
NM_000199.5(SGSH):c.1008T>C (p.Phe336=) rs2144698448
NM_000199.5(SGSH):c.1011C>T (p.Gly337=)
NM_000199.5(SGSH):c.1014G>A (p.Ser338=) rs1329179099
NM_000199.5(SGSH):c.1014G>T (p.Ser338=)
NM_000199.5(SGSH):c.1020C>T (p.Thr340=)
NM_000199.5(SGSH):c.102C>G (p.Gly34=)
NM_000199.5(SGSH):c.1036C>A (p.Arg346=)
NM_000199.5(SGSH):c.1038G>A (p.Arg346=)
NM_000199.5(SGSH):c.1041C>A (p.Ser347=)
NM_000199.5(SGSH):c.1053G>C (p.Ala351=) rs757723989
NM_000199.5(SGSH):c.1059G>A (p.Glu353=)
NM_000199.5(SGSH):c.1062C>A (p.Ala354=)
NM_000199.5(SGSH):c.1062C>G (p.Ala354=) rs150750383
NM_000199.5(SGSH):c.1068C>G (p.Pro356=) rs2144696905
NM_000199.5(SGSH):c.1068C>T (p.Pro356=)
NM_000199.5(SGSH):c.1080C>A (p.Thr360=)
NM_000199.5(SGSH):c.1083C>G (p.Val361=) rs1163683351
NM_000199.5(SGSH):c.1089C>T (p.Gly363=)
NM_000199.5(SGSH):c.108G>A (p.Glu36=)
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=)
NM_000199.5(SGSH):c.1110C>T (p.Val370=)
NM_000199.5(SGSH):c.1122C>T (p.Tyr374=)
NM_000199.5(SGSH):c.1125C>T (p.Pro375=)
NM_000199.5(SGSH):c.1131C>T (p.Arg377=)
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=)
NM_000199.5(SGSH):c.117G>T (p.Ala39=) rs201132655
NM_000199.5(SGSH):c.1185C>G (p.Pro395=)
NM_000199.5(SGSH):c.120C>T (p.Tyr40=)
NM_000199.5(SGSH):c.1215A>C (p.Ser405=) rs1352657640
NM_000199.5(SGSH):c.1218C>T (p.Pro406=)
NM_000199.5(SGSH):c.1221C>T (p.Thr407=) rs1598738043
NM_000199.5(SGSH):c.1233C>T (p.Leu411=)
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=)
NM_000199.5(SGSH):c.1278C>T (p.Asp426=)
NM_000199.5(SGSH):c.1284T>C (p.Arg428=)
NM_000199.5(SGSH):c.1299G>A (p.Arg433=)
NM_000199.5(SGSH):c.1305C>T (p.Arg435=)
NM_000199.5(SGSH):c.1320C>T (p.Asp440=) rs751683275
NM_000199.5(SGSH):c.1323G>A (p.Arg441=)
NM_000199.5(SGSH):c.1332C>T (p.Asp444=)
NM_000199.5(SGSH):c.1338C>T (p.His446=) rs762208419
NM_000199.5(SGSH):c.1341G>A (p.Glu447=)
NM_000199.5(SGSH):c.1344C>T (p.Thr448=)
NM_000199.5(SGSH):c.1356C>A (p.Ala452=) rs2041601835
NM_000199.5(SGSH):c.135C>A (p.Ile45=)
NM_000199.5(SGSH):c.1374T>C (p.Ala458=)
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=)
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=)
NM_000199.5(SGSH):c.1422G>A (p.Glu474=)
NM_000199.5(SGSH):c.1425C>A (p.Thr475=)
NM_000199.5(SGSH):c.1425C>G (p.Thr475=)
NM_000199.5(SGSH):c.1431C>T (p.Asp477=)
NM_000199.5(SGSH):c.1434C>A (p.Pro478=)
NM_000199.5(SGSH):c.1434C>T (p.Pro478=)
NM_000199.5(SGSH):c.1440G>T (p.Val480=)
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=)
NM_000199.5(SGSH):c.1467G>A (p.Glu489=) rs2144687765
NM_000199.5(SGSH):c.1470G>A (p.Lys490=)
NM_000199.5(SGSH):c.1473C>G (p.Leu491=) rs1436483872
NM_000199.5(SGSH):c.1473C>T (p.Leu491=)
NM_000199.5(SGSH):c.1476T>C (p.Ser492=) rs769228670
NM_000199.5(SGSH):c.1491C>T (p.Pro497=)
NM_000199.5(SGSH):c.1503G>A (p.Glu501=)
NM_000199.5(SGSH):c.154G>A (p.Ala52Thr) rs551094331
NM_000199.5(SGSH):c.168C>G (p.Arg56=)
NM_000199.5(SGSH):c.174C>T (p.Leu58=) rs1278899264
NM_000199.5(SGSH):c.177C>G (p.Leu59=)
NM_000199.5(SGSH):c.180T>C (p.Phe60=)
NM_000199.5(SGSH):c.183C>G (p.Arg61=) rs561475181
NM_000199.5(SGSH):c.183C>T (p.Arg61=)
NM_000199.5(SGSH):c.189C>T (p.Ala63=)
NM_000199.5(SGSH):c.192C>T (p.Phe64=)
NM_000199.5(SGSH):c.195C>G (p.Thr65=)
NM_000199.5(SGSH):c.195C>T (p.Thr65=) rs2144781531
NM_000199.5(SGSH):c.198G>A (p.Ser66=)
NM_000199.5(SGSH):c.198G>C (p.Ser66=)
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=)
NM_000199.5(SGSH):c.222C>A (p.Arg74=)
NM_000199.5(SGSH):c.222C>T (p.Arg74=) rs768056322
NM_000199.5(SGSH):c.225C>T (p.Ala75=)
NM_000199.5(SGSH):c.237T>C (p.Thr79=)
NM_000199.5(SGSH):c.246C>G (p.Pro82=)
NM_000199.5(SGSH):c.249+14G>A
NM_000199.5(SGSH):c.249+14G>T
NM_000199.5(SGSH):c.249+15G>A
NM_000199.5(SGSH):c.249+15G>T rs941020879
NM_000199.5(SGSH):c.249+17G>A
NM_000199.5(SGSH):c.249+18G>A
NM_000199.5(SGSH):c.249+19G>T rs372274963
NM_000199.5(SGSH):c.249+24G>A
NM_000199.5(SGSH):c.249+28G>A
NM_000199.5(SGSH):c.249+8G>A
NM_000199.5(SGSH):c.24C>T (p.Cys8=) rs2144833062
NM_000199.5(SGSH):c.250-13C>T
NM_000199.5(SGSH):c.250-15C>G rs369082713
NM_000199.5(SGSH):c.250-7C>T
NM_000199.5(SGSH):c.250-8G>T rs1043560351
NM_000199.5(SGSH):c.261G>A (p.Gly87=)
NM_000199.5(SGSH):c.270G>A (p.Gly90=)
NM_000199.5(SGSH):c.273G>A (p.Leu91=) rs2144755014
NM_000199.5(SGSH):c.276C>T (p.His92=)
NM_000199.5(SGSH):c.282C>T (p.Asp94=) rs748857638
NM_000199.5(SGSH):c.288C>T (p.His96=)
NM_000199.5(SGSH):c.300C>A (p.Ser100=)
NM_000199.5(SGSH):c.30_31delinsTT (p.Ala10_Leu11=) rs2144832917
NM_000199.5(SGSH):c.31C>T (p.Leu11=)
NM_000199.5(SGSH):c.321G>A (p.Leu107=)
NM_000199.5(SGSH):c.333C>T (p.Leu111=)
NM_000199.5(SGSH):c.336C>T (p.Ser112=)
NM_000199.5(SGSH):c.345T>C (p.Gly115=)
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.351C>T (p.Arg117=)
NM_000199.5(SGSH):c.355+16C>G
NM_000199.5(SGSH):c.355+16C>T
NM_000199.5(SGSH):c.355+17G>A
NM_000199.5(SGSH):c.355+20G>A
NM_000199.5(SGSH):c.356-12C>T
NM_000199.5(SGSH):c.356-14C>G
NM_000199.5(SGSH):c.356-14del
NM_000199.5(SGSH):c.356-16CT[2]
NM_000199.5(SGSH):c.356-18G>A
NM_000199.5(SGSH):c.356-18G>T
NM_000199.5(SGSH):c.356-5C>T rs1240953762
NM_000199.5(SGSH):c.357C>T (p.Gly119=)
NM_000199.5(SGSH):c.360C>T (p.Ile120=) rs1314987469
NM_000199.5(SGSH):c.372G>A (p.Lys124=)
NM_000199.5(SGSH):c.378G>A (p.Val126=) rs771878830
NM_000199.5(SGSH):c.378G>T (p.Val126=)
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=)
NM_000199.5(SGSH):c.39A>G (p.Leu13=) rs2144832681
NM_000199.5(SGSH):c.408T>C (p.Phe136=)
NM_000199.5(SGSH):c.411G>C (p.Ala137=)
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=)
NM_000199.5(SGSH):c.435C>T (p.Val145=) rs2144749023
NM_000199.5(SGSH):c.459T>C (p.Thr153=)
NM_000199.5(SGSH):c.45G>T (p.Leu15=)
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=)
NM_000199.5(SGSH):c.480G>T (p.Arg160=) rs2144748453
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=)
NM_000199.5(SGSH):c.506+10G>C rs549782167
NM_000199.5(SGSH):c.506+11G>A
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
NM_000199.5(SGSH):c.506+14C>G
NM_000199.5(SGSH):c.506+14C>T
NM_000199.5(SGSH):c.506+16C>T rs2041815351
NM_000199.5(SGSH):c.506+18T>C
NM_000199.5(SGSH):c.506+7G>T rs2144748073
NM_000199.5(SGSH):c.506+9C>G rs376523398
NM_000199.5(SGSH):c.507-12C>T
NM_000199.5(SGSH):c.507-14C>A
NM_000199.5(SGSH):c.507-14C>T
NM_000199.5(SGSH):c.507-15C>A
NM_000199.5(SGSH):c.507-18G>A
NM_000199.5(SGSH):c.519C>T (p.Leu173=)
NM_000199.5(SGSH):c.528C>T (p.Ala176=)
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=)
NM_000199.5(SGSH):c.591T>C (p.Phe197=)
NM_000199.5(SGSH):c.633C>G (p.Thr211=)
NM_000199.5(SGSH):c.633C>T (p.Thr211=) rs187147954
NM_000199.5(SGSH):c.636C>G (p.Pro212=)
NM_000199.5(SGSH):c.648C>T (p.Asp216=) rs2144742092
NM_000199.5(SGSH):c.654G>A (p.Leu218=)
NM_000199.5(SGSH):c.658G>T (p.Val220Leu) rs150508741
NM_000199.5(SGSH):c.660G>A (p.Val220=)
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+17T>G
NM_000199.5(SGSH):c.663+17_663+18inv
NM_000199.5(SGSH):c.663+20G>A
NM_000199.5(SGSH):c.663+9G>T
NM_000199.5(SGSH):c.664-11G>A rs761740352
NM_000199.5(SGSH):c.664-15C>T
NM_000199.5(SGSH):c.664-19T>C
NM_000199.5(SGSH):c.664-20C>G
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
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=)
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=)
NM_000199.5(SGSH):c.699A>C (p.Arg233=) rs1361941081
NM_000199.5(SGSH):c.69G>A (p.Arg23=)
NM_000199.5(SGSH):c.702C>A (p.Ala234=)
NM_000199.5(SGSH):c.711C>A (p.Ala237=)
NM_000199.5(SGSH):c.714T>C (p.Ala238=)
NM_000199.5(SGSH):c.723C>G (p.Thr241=)
NM_000199.5(SGSH):c.726C>A (p.Thr242=) rs1347877363
NM_000199.5(SGSH):c.732C>A (p.Gly244=) rs1161386511
NM_000199.5(SGSH):c.745+10C>T
NM_000199.5(SGSH):c.745+11A>G
NM_000199.5(SGSH):c.745+15C>A
NM_000199.5(SGSH):c.745+18G>A
NM_000199.5(SGSH):c.745+19G>A
NM_000199.5(SGSH):c.745+20C>T
NM_000199.5(SGSH):c.746-11C>T
NM_000199.5(SGSH):c.746-11_746-10del
NM_000199.5(SGSH):c.746-12C>G
NM_000199.5(SGSH):c.746-13C>A
NM_000199.5(SGSH):c.746-13C>T
NM_000199.5(SGSH):c.746-18C>G rs2041699655
NM_000199.5(SGSH):c.746-18C>T
NM_000199.5(SGSH):c.746-20T>C
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=)
NM_000199.5(SGSH):c.756G>C (p.Leu252=)
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=)
NM_000199.5(SGSH):c.799C>T (p.Leu267=) rs1182273458
NM_000199.5(SGSH):c.816C>G (p.Ser272=)
NM_000199.5(SGSH):c.849C>A (p.Thr283=) rs2041693602
NM_000199.5(SGSH):c.849C>T (p.Thr283=)
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=)
NM_000199.5(SGSH):c.855G>C (p.Leu285=)
NM_000199.5(SGSH):c.858C>T (p.Tyr286=)
NM_000199.5(SGSH):c.870T>G (p.Thr290=)
NM_000199.5(SGSH):c.873T>C (p.Ala291=)
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
NM_000199.5(SGSH):c.88+14C>T rs2144831422
NM_000199.5(SGSH):c.88+16G>A
NM_000199.5(SGSH):c.88+17C>A
NM_000199.5(SGSH):c.88+18C>T
NM_000199.5(SGSH):c.880T>C (p.Leu294=)
NM_000199.5(SGSH):c.885G>T (p.Leu295=)
NM_000199.5(SGSH):c.888G>A (p.Val296=) rs1598742505
NM_000199.5(SGSH):c.89-12C>T
NM_000199.5(SGSH):c.89-17T>A rs2041926405
NM_000199.5(SGSH):c.89-18_89-15del rs768357480
NM_000199.5(SGSH):c.89-19T>C
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
NM_000199.5(SGSH):c.89-9C>T rs1333750382
NM_000199.5(SGSH):c.897G>A (p.Pro299=)
NM_000199.5(SGSH):c.897G>T (p.Pro299=)
NM_000199.5(SGSH):c.924C>G (p.Val308=)
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
NM_000199.5(SGSH):c.949+13_949+14del
NM_000199.5(SGSH):c.949+15_949+18del rs771786259
NM_000199.5(SGSH):c.949+18T>C
NM_000199.5(SGSH):c.949+9T>G
NM_000199.5(SGSH):c.949+9_949+10del
NM_000199.5(SGSH):c.950-14C>T
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=)
NM_000199.5(SGSH):c.981G>A (p.Ser327=) rs143223388
NM_000199.5(SGSH):c.990C>T (p.Tyr330=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.