ClinVar Miner

List of variants reported as likely benign for Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 550
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_152419.3(HGSNAT):c.1759G>A (p.Glu587Lys) rs202128129 0.00134
NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys) rs192857413 0.00082
NM_152419.3(HGSNAT):c.1752C>T (p.Val584=) rs200678234 0.00080
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=) rs184883937 0.00077
NM_152419.3(HGSNAT):c.12G>A (p.Ala4=) rs1018475767 0.00061
NM_152419.3(HGSNAT):c.199T>C (p.Leu67=) rs376924663 0.00059
NM_152419.3(HGSNAT):c.765C>T (p.Val255=) rs137963729 0.00046
NM_152419.3(HGSNAT):c.1623G>A (p.Ser541=) rs372909374 0.00038
NM_152419.3(HGSNAT):c.17G>A (p.Arg6Lys) rs867446205 0.00035
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=) rs886062952 0.00031
NM_152419.3(HGSNAT):c.1251-4C>T rs374882647 0.00027
NM_152419.3(HGSNAT):c.468C>T (p.Asn156=) rs376382820 0.00022
NM_152419.3(HGSNAT):c.1488C>T (p.Tyr496=) rs371042202 0.00017
NM_152419.3(HGSNAT):c.205G>A (p.Val69Ile) rs202001245 0.00016
NM_152419.3(HGSNAT):c.321C>T (p.His107=) rs571883806 0.00016
NM_152419.3(HGSNAT):c.1128+8A>G rs371054148 0.00013
NM_152419.3(HGSNAT):c.1378-20T>G rs376109017 0.00012
NM_152419.3(HGSNAT):c.1779C>T (p.Phe593=) rs374463372 0.00011
NM_152419.3(HGSNAT):c.699A>G (p.Leu233=) rs756091468 0.00009
NM_152419.3(HGSNAT):c.741G>A (p.Arg247=) rs775663094 0.00009
NM_152419.3(HGSNAT):c.339G>A (p.Leu113=) rs1373363345 0.00008
NM_152419.3(HGSNAT):c.479T>C (p.Val160Ala) rs369469113 0.00008
NM_152419.3(HGSNAT):c.682C>A (p.Pro228Thr) rs369975831 0.00008
NM_152419.3(HGSNAT):c.1542+18C>T rs1013624277 0.00006
NM_152419.3(HGSNAT):c.633+20G>C rs144188129 0.00006
NM_152419.3(HGSNAT):c.666C>T (p.Leu222=) rs754275273 0.00006
NM_152419.3(HGSNAT):c.1495C>T (p.Arg499Trp) rs200238482 0.00005
NM_152419.3(HGSNAT):c.118+17T>C rs912987473 0.00004
NM_152419.3(HGSNAT):c.1347C>T (p.Asp449=) rs752420375 0.00004
NM_152419.3(HGSNAT):c.1839C>T (p.Ile613=) rs772611068 0.00004
NM_152419.3(HGSNAT):c.277G>T (p.Ala93Ser) rs368452647 0.00004
NM_152419.3(HGSNAT):c.285G>A (p.Lys95=) rs752466254 0.00004
NM_152419.3(HGSNAT):c.840C>T (p.Leu280=) rs1000820440 0.00004
NM_152419.3(HGSNAT):c.87G>C (p.Ser29=) rs1461385635 0.00004
NM_152419.3(HGSNAT):c.1044G>A (p.Val348=) rs374020825 0.00003
NM_152419.3(HGSNAT):c.1129-6A>G rs777965568 0.00003
NM_152419.3(HGSNAT):c.1250+11C>A rs185075731 0.00003
NM_152419.3(HGSNAT):c.1326C>T (p.Ile442=) rs765410268 0.00003
NM_152419.3(HGSNAT):c.234+17A>G rs1177889475 0.00003
NM_152419.3(HGSNAT):c.563+20C>T rs367934394 0.00003
NM_152419.3(HGSNAT):c.654G>A (p.Arg218=) rs561712734 0.00003
NM_152419.3(HGSNAT):c.711G>A (p.Pro237=) rs376484914 0.00003
NM_152419.3(HGSNAT):c.1023C>T (p.Asp341=) rs772729729 0.00002
NM_152419.3(HGSNAT):c.1377+14G>A rs781546106 0.00002
NM_152419.3(HGSNAT):c.1377+19C>T rs753305419 0.00002
NM_152419.3(HGSNAT):c.1614-10C>T rs755029430 0.00002
NM_152419.3(HGSNAT):c.168A>G (p.Leu56=) rs769399813 0.00002
NM_152419.3(HGSNAT):c.1836C>T (p.Asn612=) rs367648422 0.00002
NM_152419.3(HGSNAT):c.1842C>T (p.Val614=) rs374563604 0.00002
NM_152419.3(HGSNAT):c.282G>A (p.Gly94=) rs751419441 0.00002
NM_152419.3(HGSNAT):c.371+15T>A rs372920077 0.00002
NM_152419.3(HGSNAT):c.690G>A (p.Thr230=) rs1303093971 0.00002
NM_152419.3(HGSNAT):c.90G>T (p.Gly30=) rs1187482453 0.00002
NM_152419.3(HGSNAT):c.945A>G (p.Ala315=) rs371569367 0.00002
NM_152419.3(HGSNAT):c.1002C>T (p.Cys334=) rs747338801 0.00001
NM_152419.3(HGSNAT):c.1008T>A (p.Gly336=) rs748217780 0.00001
NM_152419.3(HGSNAT):c.1012+10T>A rs372410947 0.00001
NM_152419.3(HGSNAT):c.1013-12T>G rs199736308 0.00001
NM_152419.3(HGSNAT):c.1045C>T (p.Leu349=) rs767921078 0.00001
NM_152419.3(HGSNAT):c.1107T>C (p.Pro369=) rs1401712530 0.00001
NM_152419.3(HGSNAT):c.111G>A (p.Pro37=) rs886062953 0.00001
NM_152419.3(HGSNAT):c.1129-5C>T rs1220052687 0.00001
NM_152419.3(HGSNAT):c.1129-7C>T rs756262049 0.00001
NM_152419.3(HGSNAT):c.1155C>T (p.Asp385=) rs768343523 0.00001
NM_152419.3(HGSNAT):c.1161G>A (p.Thr387=) rs761414980 0.00001
NM_152419.3(HGSNAT):c.118+10C>A rs768117824 0.00001
NM_152419.3(HGSNAT):c.1224C>T (p.Phe408=) rs779284289 0.00001
NM_152419.3(HGSNAT):c.1251-16C>G rs371770607 0.00001
NM_152419.3(HGSNAT):c.1290G>A (p.Lys430=) rs748987930 0.00001
NM_152419.3(HGSNAT):c.1302C>T (p.Cys434=) rs759417010 0.00001
NM_152419.3(HGSNAT):c.1359C>T (p.Tyr453=) rs376647117 0.00001
NM_152419.3(HGSNAT):c.1368A>G (p.Pro456=) rs1411732379 0.00001
NM_152419.3(HGSNAT):c.1377+7G>C rs1225445756 0.00001
NM_152419.3(HGSNAT):c.1392C>T (p.Thr464=) rs767972481 0.00001
NM_152419.3(HGSNAT):c.1410C>T (p.Pro470=) rs779611596 0.00001
NM_152419.3(HGSNAT):c.1440C>T (p.Ile480=) rs779933668 0.00001
NM_152419.3(HGSNAT):c.1465-14G>A rs1484663572 0.00001
NM_152419.3(HGSNAT):c.1543-20C>A rs201435854 0.00001
NM_152419.3(HGSNAT):c.1543-7A>G rs781471935 0.00001
NM_152419.3(HGSNAT):c.1545G>A (p.Gly515=) rs1440154264 0.00001
NM_152419.3(HGSNAT):c.1632T>C (p.Thr544=) rs757706222 0.00001
NM_152419.3(HGSNAT):c.1669C>T (p.Leu557=) rs761500930 0.00001
NM_152419.3(HGSNAT):c.1698G>A (p.Leu566=) rs752785040 0.00001
NM_152419.3(HGSNAT):c.1727-13C>G rs747875081 0.00001
NM_152419.3(HGSNAT):c.1727-17A>G rs780686580 0.00001
NM_152419.3(HGSNAT):c.1815C>T (p.His605=) rs1249488528 0.00001
NM_152419.3(HGSNAT):c.1821G>A (p.Glu607=) rs769449292 0.00001
NM_152419.3(HGSNAT):c.1907G>A (p.Ter636=) rs1804852687 0.00001
NM_152419.3(HGSNAT):c.234+10A>T rs1802742419 0.00001
NM_152419.3(HGSNAT):c.258C>T (p.Asn86=) rs772299811 0.00001
NM_152419.3(HGSNAT):c.261T>A (p.Val87=) rs1461875540 0.00001
NM_152419.3(HGSNAT):c.279A>C (p.Ala93=) rs766369405 0.00001
NM_152419.3(HGSNAT):c.288T>C (p.Pro96=) rs755833800 0.00001
NM_152419.3(HGSNAT):c.360A>G (p.Lys120=) rs200079240 0.00001
NM_152419.3(HGSNAT):c.366T>G (p.Val122=) rs1803172362 0.00001
NM_152419.3(HGSNAT):c.369T>C (p.Cys123=) rs1258501549 0.00001
NM_152419.3(HGSNAT):c.39G>C (p.Leu13=) rs1335563220 0.00001
NM_152419.3(HGSNAT):c.411C>G (p.Leu137=) rs1051098032 0.00001
NM_152419.3(HGSNAT):c.453T>C (p.Cys151=) rs763777880 0.00001
NM_152419.3(HGSNAT):c.45G>A (p.Ala15=) rs1351688097 0.00001
NM_152419.3(HGSNAT):c.486T>C (p.Ser162=) rs1803185644 0.00001
NM_152419.3(HGSNAT):c.48C>G (p.Ser16=) rs1802479958 0.00001
NM_152419.3(HGSNAT):c.558G>A (p.Leu186=) rs953533399 0.00001
NM_152419.3(HGSNAT):c.559T>C (p.Leu187=) rs1408418542 0.00001
NM_152419.3(HGSNAT):c.563+7T>C rs756465413 0.00001
NM_152419.3(HGSNAT):c.591T>C (p.Ser197=) rs1355715592 0.00001
NM_152419.3(HGSNAT):c.60C>T (p.Ala20=) rs1251787808 0.00001
NM_152419.3(HGSNAT):c.64C>T (p.Leu22=) rs1164054537 0.00001
NM_152419.3(HGSNAT):c.726C>T (p.Ser242=) rs181728385 0.00001
NM_152419.3(HGSNAT):c.735C>G (p.Thr245=) rs997906795 0.00001
NM_152419.3(HGSNAT):c.777T>C (p.Tyr259=) rs376365655 0.00001
NM_152419.3(HGSNAT):c.837C>T (p.Asp279=) rs1277158595 0.00001
NM_152419.3(HGSNAT):c.849G>A (p.Pro283=) rs368058038 0.00001
NM_152419.3(HGSNAT):c.851+7T>G rs756810802 0.00001
NM_152419.3(HGSNAT):c.851+9C>T rs755549867 0.00001
NM_152419.3(HGSNAT):c.885A>G (p.Leu295=) rs200637619 0.00001
NM_152419.3(HGSNAT):c.888G>A (p.Ser296=) rs780309535 0.00001
NM_152419.3(HGSNAT):c.928T>C (p.Leu310=) rs1358940142 0.00001
NM_152419.3(HGSNAT):c.987G>C (p.Val329=) rs1241816731 0.00001
NM_152419.3(HGSNAT):c.1005T>A (p.Leu335=)
NM_152419.3(HGSNAT):c.1012+14C>A
NM_152419.3(HGSNAT):c.1012+14C>T
NM_152419.3(HGSNAT):c.1012+15C>T
NM_152419.3(HGSNAT):c.1012+19T>C
NM_152419.3(HGSNAT):c.1012+7A>G
NM_152419.3(HGSNAT):c.1012+7dup
NM_152419.3(HGSNAT):c.1012+8C>A
NM_152419.3(HGSNAT):c.1012+8del rs2130766762
NM_152419.3(HGSNAT):c.1013-12T>C
NM_152419.3(HGSNAT):c.1013-15_1013-14del
NM_152419.3(HGSNAT):c.1013-20C>T rs1804147010
NM_152419.3(HGSNAT):c.1013-4G>A rs1260943762
NM_152419.3(HGSNAT):c.1013-9C>G rs2130783567
NM_152419.3(HGSNAT):c.1026G>A (p.Lys342=)
NM_152419.3(HGSNAT):c.102G>A (p.Gln34=)
NM_152419.3(HGSNAT):c.1050G>A (p.Gln350=) rs2130783705
NM_152419.3(HGSNAT):c.1051C>A (p.Arg351=)
NM_152419.3(HGSNAT):c.1054T>C (p.Leu352=)
NM_152419.3(HGSNAT):c.105C>G (p.Ala35=)
NM_152419.3(HGSNAT):c.105C>T (p.Ala35=)
NM_152419.3(HGSNAT):c.1062G>A (p.Val354=)
NM_152419.3(HGSNAT):c.1065A>T (p.Thr355=)
NM_152419.3(HGSNAT):c.1080T>G (p.Ala360=) rs757385876
NM_152419.3(HGSNAT):c.1089G>A (p.Glu363=)
NM_152419.3(HGSNAT):c.108G>C (p.Ala36=) rs886062952
NM_152419.3(HGSNAT):c.1095C>T (p.Leu365=)
NM_152419.3(HGSNAT):c.1101T>C (p.Ala367=)
NM_152419.3(HGSNAT):c.1104A>G (p.Lys368=)
NM_152419.3(HGSNAT):c.1110G>C (p.Val370=)
NM_152419.3(HGSNAT):c.1116A>G (p.Glu372=) rs781052651
NM_152419.3(HGSNAT):c.1125C>G (p.Ala375=) rs987062801
NM_152419.3(HGSNAT):c.1125C>T (p.Ala375=) rs987062801
NM_152419.3(HGSNAT):c.1128+11A>G
NM_152419.3(HGSNAT):c.1128+13G>A
NM_152419.3(HGSNAT):c.1128+14T>A
NM_152419.3(HGSNAT):c.1128+16T>C
NM_152419.3(HGSNAT):c.1128+9C>A
NM_152419.3(HGSNAT):c.1129-10C>A
NM_152419.3(HGSNAT):c.1129-7C>A rs756262049
NM_152419.3(HGSNAT):c.1129-9C>T
NM_152419.3(HGSNAT):c.1158C>T (p.Ile386=)
NM_152419.3(HGSNAT):c.115C>A (p.Arg39=)
NM_152419.3(HGSNAT):c.1161G>T (p.Thr387=) rs761414980
NM_152419.3(HGSNAT):c.1173C>T (p.Pro391=) rs1563381683
NM_152419.3(HGSNAT):c.118+10C>T rs768117824
NM_152419.3(HGSNAT):c.118+11A>C
NM_152419.3(HGSNAT):c.118+11A>G
NM_152419.3(HGSNAT):c.118+12C>G rs1408305187
NM_152419.3(HGSNAT):c.118+12C>T
NM_152419.3(HGSNAT):c.118+13C>A
NM_152419.3(HGSNAT):c.118+13C>G
NM_152419.3(HGSNAT):c.118+13C>T
NM_152419.3(HGSNAT):c.118+16C>G rs1457633859
NM_152419.3(HGSNAT):c.118+16C>T
NM_152419.3(HGSNAT):c.118+18A>C
NM_152419.3(HGSNAT):c.118+18A>G
NM_152419.3(HGSNAT):c.118+19C>T
NM_152419.3(HGSNAT):c.118+20C>G rs1802485942
NM_152419.3(HGSNAT):c.118+20C>T rs1802485942
NM_152419.3(HGSNAT):c.118+7G>A rs1298192155
NM_152419.3(HGSNAT):c.118+7G>C
NM_152419.3(HGSNAT):c.118+8C>G rs2130648798
NM_152419.3(HGSNAT):c.118+8C>T rs2130648798
NM_152419.3(HGSNAT):c.118+9A>C
NM_152419.3(HGSNAT):c.1182G>A (p.Leu394=)
NM_152419.3(HGSNAT):c.1182G>C (p.Leu394=) rs1218241477
NM_152419.3(HGSNAT):c.1185C>T (p.Leu395=)
NM_152419.3(HGSNAT):c.119-12A>G
NM_152419.3(HGSNAT):c.119-5A>G rs756141376
NM_152419.3(HGSNAT):c.119-9T>C rs1346109871
NM_152419.3(HGSNAT):c.1191G>C (p.Leu397=) rs1563381716
NM_152419.3(HGSNAT):c.1195C>T (p.Leu399=)
NM_152419.3(HGSNAT):c.1221A>G (p.Thr407=)
NM_152419.3(HGSNAT):c.1227C>T (p.Leu409=) rs2130805422
NM_152419.3(HGSNAT):c.1228C>T (p.Leu410=)
NM_152419.3(HGSNAT):c.1230G>T (p.Leu410=) rs1356136152
NM_152419.3(HGSNAT):c.1248T>C (p.Pro416=)
NM_152419.3(HGSNAT):c.1250+10C>A
NM_152419.3(HGSNAT):c.1250+10C>T rs2130805528
NM_152419.3(HGSNAT):c.1250+12C>T rs1804532623
NM_152419.3(HGSNAT):c.1250+14T>C
NM_152419.3(HGSNAT):c.1250+15G>C
NM_152419.3(HGSNAT):c.1250+16G>A
NM_152419.3(HGSNAT):c.1250+17G>T
NM_152419.3(HGSNAT):c.1250+18G>A
NM_152419.3(HGSNAT):c.1250+7G>C rs74795999
NM_152419.3(HGSNAT):c.1251-14T>C
NM_152419.3(HGSNAT):c.1251-4C>G
NM_152419.3(HGSNAT):c.1251-6T>C rs2130807215
NM_152419.3(HGSNAT):c.1251-8C>A
NM_152419.3(HGSNAT):c.1251-9C>T
NM_152419.3(HGSNAT):c.1269G>A (p.Gly423=) rs2130807297
NM_152419.3(HGSNAT):c.1275T>C (p.Ile425=) rs1586751999
NM_152419.3(HGSNAT):c.1281T>C (p.Asp427=)
NM_152419.3(HGSNAT):c.1299T>C (p.Asn433=) rs2130807411
NM_152419.3(HGSNAT):c.12G>C (p.Ala4=) rs1018475767
NM_152419.3(HGSNAT):c.12G>T (p.Ala4=) rs1018475767
NM_152419.3(HGSNAT):c.1314T>C (p.Ala438=) rs776703067
NM_152419.3(HGSNAT):c.132A>G (p.Lys44=) rs2130677148
NM_152419.3(HGSNAT):c.1338G>C (p.Leu446=) rs2130807561
NM_152419.3(HGSNAT):c.1344A>G (p.Gly448=)
NM_152419.3(HGSNAT):c.1353C>T (p.His451=)
NM_152419.3(HGSNAT):c.1371T>A (p.Ser457=) rs947648591
NM_152419.3(HGSNAT):c.1377+11C>G
NM_152419.3(HGSNAT):c.1377+13C>A
NM_152419.3(HGSNAT):c.1377+13C>T
NM_152419.3(HGSNAT):c.1377+14G>C
NM_152419.3(HGSNAT):c.1377+15A>G
NM_152419.3(HGSNAT):c.1377+15A>T
NM_152419.3(HGSNAT):c.1377+7G>A rs1225445756
NM_152419.3(HGSNAT):c.1377+9G>C rs2130807739
NM_152419.3(HGSNAT):c.1378-13T>G rs2130810544
NM_152419.3(HGSNAT):c.1378-17T>C
NM_152419.3(HGSNAT):c.1380A>T (p.Val460=)
NM_152419.3(HGSNAT):c.138T>C (p.His46=)
NM_152419.3(HGSNAT):c.1392C>A (p.Thr464=) rs767972481
NM_152419.3(HGSNAT):c.1392C>G (p.Thr464=) rs767972481
NM_152419.3(HGSNAT):c.1401C>G (p.Ala467=)
NM_152419.3(HGSNAT):c.1401C>T (p.Ala467=) rs1337915028
NM_152419.3(HGSNAT):c.1404T>C (p.Tyr468=)
NM_152419.3(HGSNAT):c.1416C>T (p.Gly472=)
NM_152419.3(HGSNAT):c.1419C>T (p.Ile473=)
NM_152419.3(HGSNAT):c.1431C>T (p.Ile477=)
NM_152419.3(HGSNAT):c.144G>A (p.Glu48=) rs2130677225
NM_152419.3(HGSNAT):c.1452T>C (p.Phe484=)
NM_152419.3(HGSNAT):c.1453T>C (p.Leu485=)
NM_152419.3(HGSNAT):c.1455A>G (p.Leu485=)
NM_152419.3(HGSNAT):c.1464+10C>A
NM_152419.3(HGSNAT):c.1464+11A>C
NM_152419.3(HGSNAT):c.1464+11A>G rs573124827
NM_152419.3(HGSNAT):c.1464+14_1464+18del
NM_152419.3(HGSNAT):c.1464+17T>C
NM_152419.3(HGSNAT):c.1464+9T>A rs1804623128
NM_152419.3(HGSNAT):c.1465-15T>C
NM_152419.3(HGSNAT):c.1465-16G>A rs2130819513
NM_152419.3(HGSNAT):c.1465-18C>T
NM_152419.3(HGSNAT):c.1465-19del
NM_152419.3(HGSNAT):c.1465-5T>C rs2130819538
NM_152419.3(HGSNAT):c.1465-6C>T
NM_152419.3(HGSNAT):c.1465-7C>T rs2130819532
NM_152419.3(HGSNAT):c.1465-9C>T rs2130819526
NM_152419.3(HGSNAT):c.1473A>G (p.Lys491=) rs2130819577
NM_152419.3(HGSNAT):c.1477C>T (p.Leu493=) rs1804746503
NM_152419.3(HGSNAT):c.1479A>G (p.Leu493=) rs751229126
NM_152419.3(HGSNAT):c.1480T>C (p.Leu494=)
NM_152419.3(HGSNAT):c.1485T>C (p.Tyr495=)
NM_152419.3(HGSNAT):c.1510C>T (p.Leu504=)
NM_152419.3(HGSNAT):c.1521C>T (p.Phe507=) rs1280407859
NM_152419.3(HGSNAT):c.1533T>C (p.Cys511=)
NM_152419.3(HGSNAT):c.1536T>C (p.Cys512=)
NM_152419.3(HGSNAT):c.1542+12G>A
NM_152419.3(HGSNAT):c.1543-10C>G
NM_152419.3(HGSNAT):c.1543-10C>T
NM_152419.3(HGSNAT):c.1543-11C>A rs1191230075
NM_152419.3(HGSNAT):c.1543-12T>G rs768881526
NM_152419.3(HGSNAT):c.1543-16C>T rs2130821050
NM_152419.3(HGSNAT):c.1543-19C>T
NM_152419.3(HGSNAT):c.1543-5T>G
NM_152419.3(HGSNAT):c.1545G>T (p.Gly515=)
NM_152419.3(HGSNAT):c.1548C>T (p.Leu516=)
NM_152419.3(HGSNAT):c.1557T>C (p.Val519=) rs2130821179
NM_152419.3(HGSNAT):c.1558G>A (p.Ala520Thr) rs541318695
NM_152419.3(HGSNAT):c.1566G>A (p.Thr522=)
NM_152419.3(HGSNAT):c.1566G>C (p.Thr522=)
NM_152419.3(HGSNAT):c.1613+8T>C rs2130821361
NM_152419.3(HGSNAT):c.1614-11A>G
NM_152419.3(HGSNAT):c.1614-13C>T rs2130821520
NM_152419.3(HGSNAT):c.1614-16C>T
NM_152419.3(HGSNAT):c.1614-18C>G
NM_152419.3(HGSNAT):c.1614-20G>A
NM_152419.3(HGSNAT):c.1614-5C>T
NM_152419.3(HGSNAT):c.1614-6T>A
NM_152419.3(HGSNAT):c.1614-6T>C rs935366032
NM_152419.3(HGSNAT):c.1614-7C>T
NM_152419.3(HGSNAT):c.1614-9C>T rs2130821536
NM_152419.3(HGSNAT):c.1617C>G (p.Ser539=) rs767625503
NM_152419.3(HGSNAT):c.1617C>T (p.Ser539=) rs767625503
NM_152419.3(HGSNAT):c.1626T>C (p.Tyr542=)
NM_152419.3(HGSNAT):c.1629C>T (p.Val543=) rs1310490354
NM_152419.3(HGSNAT):c.1635G>A (p.Thr545=) rs775897635
NM_152419.3(HGSNAT):c.1635G>C (p.Thr545=) rs775897635
NM_152419.3(HGSNAT):c.1638C>A (p.Leu546=) rs2130821674
NM_152419.3(HGSNAT):c.1641T>C (p.Ser547=)
NM_152419.3(HGSNAT):c.1644T>A (p.Ser548=) rs1586758163
NM_152419.3(HGSNAT):c.1650C>T (p.Ala550=) rs1586758179
NM_152419.3(HGSNAT):c.1671G>A (p.Leu557=) rs369681926
NM_152419.3(HGSNAT):c.1677A>G (p.Pro559=) rs2130821776
NM_152419.3(HGSNAT):c.1680T>G (p.Val560=) rs2130821797
NM_152419.3(HGSNAT):c.168A>T (p.Leu56=)
NM_152419.3(HGSNAT):c.1692G>A (p.Lys564=)
NM_152419.3(HGSNAT):c.1704A>G (p.Thr568=) rs1804781951
NM_152419.3(HGSNAT):c.1707A>G (p.Gly569=)
NM_152419.3(HGSNAT):c.1710C>A (p.Thr570=) rs1469124590
NM_152419.3(HGSNAT):c.1710C>T (p.Thr570=) rs1469124590
NM_152419.3(HGSNAT):c.1713A>T (p.Pro571=)
NM_152419.3(HGSNAT):c.171C>T (p.Leu57=)
NM_152419.3(HGSNAT):c.1722T>C (p.Tyr574=)
NM_152419.3(HGSNAT):c.1726+10C>T
NM_152419.3(HGSNAT):c.1726+13C>T
NM_152419.3(HGSNAT):c.1726+14A>G
NM_152419.3(HGSNAT):c.1726+15A>C
NM_152419.3(HGSNAT):c.1726+15A>G
NM_152419.3(HGSNAT):c.1726+17C>T rs2130822028
NM_152419.3(HGSNAT):c.1726+18T>G
NM_152419.3(HGSNAT):c.1726+22dup rs755106287
NM_152419.3(HGSNAT):c.1727-11C>G rs1370309387
NM_152419.3(HGSNAT):c.1727-11C>T
NM_152419.3(HGSNAT):c.1727-14TC[3] rs1804842925
NM_152419.3(HGSNAT):c.1727-15G>A rs2130825457
NM_152419.3(HGSNAT):c.1727-17A>T rs780686580
NM_152419.3(HGSNAT):c.1727-19G>A rs369322408
NM_152419.3(HGSNAT):c.1727-19G>C rs369322408
NM_152419.3(HGSNAT):c.1727-20T>C
NM_152419.3(HGSNAT):c.1727-4dup
NM_152419.3(HGSNAT):c.1727-5T>A
NM_152419.3(HGSNAT):c.1727-9C>T
NM_152419.3(HGSNAT):c.1746A>G (p.Val582=)
NM_152419.3(HGSNAT):c.1755C>T (p.Gly585=) rs2130825582
NM_152419.3(HGSNAT):c.1758C>T (p.His586=) rs1420418918
NM_152419.3(HGSNAT):c.1764G>A (p.Val588=) rs765645520
NM_152419.3(HGSNAT):c.1776C>T (p.Tyr592=)
NM_152419.3(HGSNAT):c.1782C>G (p.Pro594=)
NM_152419.3(HGSNAT):c.1794G>A (p.Lys598=)
NM_152419.3(HGSNAT):c.1795C>T (p.Leu599=)
NM_152419.3(HGSNAT):c.1800G>A (p.Lys600=)
NM_152419.3(HGSNAT):c.1803C>T (p.Asp601=) rs752160921
NM_152419.3(HGSNAT):c.1806C>T (p.Asn602=)
NM_152419.3(HGSNAT):c.180T>C (p.Asn60=)
NM_152419.3(HGSNAT):c.1818G>A (p.Lys606=)
NM_152419.3(HGSNAT):c.1824C>T (p.His608=) rs2130825787
NM_152419.3(HGSNAT):c.183A>G (p.Glu61=) rs2130677470
NM_152419.3(HGSNAT):c.1842C>A (p.Val614=) rs374563604
NM_152419.3(HGSNAT):c.1845C>T (p.Ala615=) rs768575788
NM_152419.3(HGSNAT):c.186T>A (p.Leu62=)
NM_152419.3(HGSNAT):c.186T>C (p.Leu62=) rs1239460572
NM_152419.3(HGSNAT):c.1872C>T (p.Tyr624=) rs946476629
NM_152419.3(HGSNAT):c.1878C>A (p.Leu626=)
NM_152419.3(HGSNAT):c.1890G>A (p.Lys630=)
NM_152419.3(HGSNAT):c.18G>A (p.Arg6=)
NM_152419.3(HGSNAT):c.195C>T (p.Thr65=) rs1307220758
NM_152419.3(HGSNAT):c.204C>A (p.Thr68=) rs199816365
NM_152419.3(HGSNAT):c.210C>T (p.Tyr70=) rs2130677640
NM_152419.3(HGSNAT):c.21G>A (p.Ala7=) rs1297145817
NM_152419.3(HGSNAT):c.234+10A>C
NM_152419.3(HGSNAT):c.234+18C>T rs1802743016
NM_152419.3(HGSNAT):c.234+20C>G
NM_152419.3(HGSNAT):c.234+20C>T
NM_152419.3(HGSNAT):c.234+8T>A rs1205007842
NM_152419.3(HGSNAT):c.235-13C>G rs2130713714
NM_152419.3(HGSNAT):c.235-16G>T
NM_152419.3(HGSNAT):c.235-18T>C
NM_152419.3(HGSNAT):c.235-19G>A
NM_152419.3(HGSNAT):c.235-19G>C
NM_152419.3(HGSNAT):c.235-4A>G rs2130713747
NM_152419.3(HGSNAT):c.235-9T>G rs913764481
NM_152419.3(HGSNAT):c.240G>A (p.Leu80=) rs774674978
NM_152419.3(HGSNAT):c.249T>C (p.Val83=) rs2130713807
NM_152419.3(HGSNAT):c.255A>G (p.Val85=)
NM_152419.3(HGSNAT):c.261T>C (p.Val87=) rs1461875540
NM_152419.3(HGSNAT):c.264T>C (p.Pro88=) rs2130713884
NM_152419.3(HGSNAT):c.273A>G (p.Pro91=) rs2130713942
NM_152419.3(HGSNAT):c.279A>G (p.Ala93=) rs766369405
NM_152419.3(HGSNAT):c.27C>A (p.Ala9=) rs1802478612
NM_152419.3(HGSNAT):c.291T>C (p.Ser97=) rs777514582
NM_152419.3(HGSNAT):c.294T>C (p.Ala98=) rs2130714083
NM_152419.3(HGSNAT):c.300T>C (p.Ala100=) rs2130714138
NM_152419.3(HGSNAT):c.306T>C (p.Ser102=) rs772490276
NM_152419.3(HGSNAT):c.30G>A (p.Ala10=)
NM_152419.3(HGSNAT):c.315C>T (p.Thr105=) rs1586712156
NM_152419.3(HGSNAT):c.331C>T (p.Leu111=) rs2130714335
NM_152419.3(HGSNAT):c.333G>T (p.Leu111=)
NM_152419.3(HGSNAT):c.345C>T (p.Asp115=) rs2130714421
NM_152419.3(HGSNAT):c.34C>T (p.Leu12=)
NM_152419.3(HGSNAT):c.357G>A (p.Glu119=)
NM_152419.3(HGSNAT):c.371+11G>C
NM_152419.3(HGSNAT):c.371+16G>C
NM_152419.3(HGSNAT):c.371+17T>C
NM_152419.3(HGSNAT):c.371+8C>T rs1803172839
NM_152419.3(HGSNAT):c.371+9C>T rs1180753142
NM_152419.3(HGSNAT):c.372-11A>T
NM_152419.3(HGSNAT):c.372-12T>C
NM_152419.3(HGSNAT):c.372-13C>T
NM_152419.3(HGSNAT):c.372-4G>T
NM_152419.3(HGSNAT):c.372-8G>A rs2130715102
NM_152419.3(HGSNAT):c.372-9T>C
NM_152419.3(HGSNAT):c.378A>G (p.Glu126=)
NM_152419.3(HGSNAT):c.37C>T (p.Leu13=) rs2130647858
NM_152419.3(HGSNAT):c.402C>T (p.Asn134=)
NM_152419.3(HGSNAT):c.405T>C (p.Tyr135=) rs1803181529
NM_152419.3(HGSNAT):c.408T>C (p.Ser136=)
NM_152419.3(HGSNAT):c.411C>T (p.Leu137=) rs1051098032
NM_152419.3(HGSNAT):c.412T>C (p.Leu138=) rs1281457648
NM_152419.3(HGSNAT):c.417A>G (p.Val139=) rs2130715314
NM_152419.3(HGSNAT):c.420G>A (p.Lys140=)
NM_152419.3(HGSNAT):c.423C>T (p.Asn141=)
NM_152419.3(HGSNAT):c.429T>C (p.His143=) rs2130715366
NM_152419.3(HGSNAT):c.42C>A (p.Ala14=)
NM_152419.3(HGSNAT):c.42C>T (p.Ala14=)
NM_152419.3(HGSNAT):c.435A>G (p.Gly145=)
NM_152419.3(HGSNAT):c.45G>C (p.Ala15=) rs1351688097
NM_152419.3(HGSNAT):c.483T>C (p.Asp161=) rs1803185540
NM_152419.3(HGSNAT):c.48C>T (p.Ser16=)
NM_152419.3(HGSNAT):c.493+14C>G
NM_152419.3(HGSNAT):c.493+14C>T
NM_152419.3(HGSNAT):c.493+16C>G
NM_152419.3(HGSNAT):c.494-12C>T rs776299194
NM_152419.3(HGSNAT):c.494-13T>C
NM_152419.3(HGSNAT):c.494-15C>A rs1033103288
NM_152419.3(HGSNAT):c.494-16T>C
NM_152419.3(HGSNAT):c.494-4C>A rs2130721854
NM_152419.3(HGSNAT):c.494-8T>A
NM_152419.3(HGSNAT):c.495T>C (p.Pro165=) rs2130721874
NM_152419.3(HGSNAT):c.510C>T (p.Phe170=)
NM_152419.3(HGSNAT):c.51G>A (p.Val17=) rs1229423417
NM_152419.3(HGSNAT):c.543C>T (p.Ser181=) rs781682753
NM_152419.3(HGSNAT):c.547C>T (p.Leu183=)
NM_152419.3(HGSNAT):c.54G>A (p.Leu18=)
NM_152419.3(HGSNAT):c.552G>A (p.Arg184=)
NM_152419.3(HGSNAT):c.563+18G>A
NM_152419.3(HGSNAT):c.563+18G>C
NM_152419.3(HGSNAT):c.563+8A>G rs2130722155
NM_152419.3(HGSNAT):c.563+9T>C
NM_152419.3(HGSNAT):c.564-10T>A rs2130741799
NM_152419.3(HGSNAT):c.564-4T>G rs2130741836
NM_152419.3(HGSNAT):c.564-8A>G rs1803532488
NM_152419.3(HGSNAT):c.564-8_564-5del
NM_152419.3(HGSNAT):c.570T>C (p.Asp190=) rs2130741857
NM_152419.3(HGSNAT):c.576T>C (p.Phe192=) rs1563366828
NM_152419.3(HGSNAT):c.579C>T (p.Asn193=)
NM_152419.3(HGSNAT):c.57C>T (p.Ser19=)
NM_152419.3(HGSNAT):c.582T>C (p.Asn194=)
NM_152419.3(HGSNAT):c.600A>C (p.Ile200=) rs2130741996
NM_152419.3(HGSNAT):c.618T>C (p.Asp206=)
NM_152419.3(HGSNAT):c.621C>T (p.Arg207=)
NM_152419.3(HGSNAT):c.624C>T (p.Leu208=)
NM_152419.3(HGSNAT):c.633+10G>A
NM_152419.3(HGSNAT):c.633+13A>G
NM_152419.3(HGSNAT):c.633+17A>G
NM_152419.3(HGSNAT):c.633+19A>G
NM_152419.3(HGSNAT):c.633+9T>C rs2130742161
NM_152419.3(HGSNAT):c.634-16C>T
NM_152419.3(HGSNAT):c.634-18C>G
NM_152419.3(HGSNAT):c.634-20T>G
NM_152419.3(HGSNAT):c.634-8T>A rs2130745626
NM_152419.3(HGSNAT):c.642A>T (p.Gly214=) rs1321515975
NM_152419.3(HGSNAT):c.651C>T (p.Ser217=) rs2130745723
NM_152419.3(HGSNAT):c.652A>C (p.Arg218=) rs541981232
NM_152419.3(HGSNAT):c.657A>G (p.Thr219=)
NM_152419.3(HGSNAT):c.66G>A (p.Leu22=) rs2130648121
NM_152419.3(HGSNAT):c.672T>C (p.Gly224=) rs757652049
NM_152419.3(HGSNAT):c.672T>G (p.Gly224=) rs757652049
NM_152419.3(HGSNAT):c.675T>C (p.Asp225=) rs951025520
NM_152419.3(HGSNAT):c.67C>T (p.Leu23=) rs1198688385
NM_152419.3(HGSNAT):c.681G>A (p.Gln227=)
NM_152419.3(HGSNAT):c.699A>C (p.Leu233=) rs756091468
NM_152419.3(HGSNAT):c.69G>A (p.Leu23=) rs1563349632
NM_152419.3(HGSNAT):c.6C>T (p.Ser2=) rs535427008
NM_152419.3(HGSNAT):c.705C>G (p.Ala235=)
NM_152419.3(HGSNAT):c.705C>T (p.Ala235=)
NM_152419.3(HGSNAT):c.706C>T (p.Leu236=) rs1051692363
NM_152419.3(HGSNAT):c.708G>A (p.Leu236=) rs2130746047
NM_152419.3(HGSNAT):c.714C>G (p.Pro238=) rs2130746108
NM_152419.3(HGSNAT):c.720C>T (p.Leu240=) rs2130746165
NM_152419.3(HGSNAT):c.72C>T (p.Ala24=) rs2130648208
NM_152419.3(HGSNAT):c.738C>T (p.Phe246=)
NM_152419.3(HGSNAT):c.743+10C>T rs2130746341
NM_152419.3(HGSNAT):c.743+13C>G
NM_152419.3(HGSNAT):c.743+17G>A rs1245020116
NM_152419.3(HGSNAT):c.743+7G>A rs750677179
NM_152419.3(HGSNAT):c.744-10C>A rs1803651376
NM_152419.3(HGSNAT):c.744-15G>T
NM_152419.3(HGSNAT):c.744-18T>A
NM_152419.3(HGSNAT):c.744-19C>G
NM_152419.3(HGSNAT):c.744-20T>G
NM_152419.3(HGSNAT):c.744-4C>G rs1312600583
NM_152419.3(HGSNAT):c.744-5_744-3del rs776162529
NM_152419.3(HGSNAT):c.744-6T>C
NM_152419.3(HGSNAT):c.750T>C (p.Ala250=)
NM_152419.3(HGSNAT):c.75C>T (p.Pro25=)
NM_152419.3(HGSNAT):c.768T>C (p.Phe256=) rs1188844284
NM_152419.3(HGSNAT):c.771C>T (p.Val257=)
NM_152419.3(HGSNAT):c.78C>T (p.Gly26=) rs1260742657
NM_152419.3(HGSNAT):c.792T>C (p.Tyr264=)
NM_152419.3(HGSNAT):c.807T>C (p.His269=)
NM_152419.3(HGSNAT):c.81C>T (p.Gly27=)
NM_152419.3(HGSNAT):c.820+19G>C
NM_152419.3(HGSNAT):c.820+7T>C
NM_152419.3(HGSNAT):c.821-14T>C
NM_152419.3(HGSNAT):c.821-20G>T
NM_152419.3(HGSNAT):c.821-26G>A
NM_152419.3(HGSNAT):c.821-27T>G rs999398262
NM_152419.3(HGSNAT):c.821-30T>C rs2130754670
NM_152419.3(HGSNAT):c.821-31C>T
NM_152419.3(HGSNAT):c.821-4G>T rs2130754740
NM_152419.3(HGSNAT):c.821-5del
NM_152419.3(HGSNAT):c.821-9G>A rs576856787
NM_152419.3(HGSNAT):c.821-9G>C
NM_152419.3(HGSNAT):c.821-9G>T rs576856787
NM_152419.3(HGSNAT):c.823C>T (p.Leu275=)
NM_152419.3(HGSNAT):c.851+10C>G rs778394235
NM_152419.3(HGSNAT):c.851+10C>T rs778394235
NM_152419.3(HGSNAT):c.851+11G>A
NM_152419.3(HGSNAT):c.851+11G>C
NM_152419.3(HGSNAT):c.851+14C>G rs2130754963
NM_152419.3(HGSNAT):c.851+16G>C
NM_152419.3(HGSNAT):c.851+16G>T rs1049678342
NM_152419.3(HGSNAT):c.851+17C>T
NM_152419.3(HGSNAT):c.851+19C>A
NM_152419.3(HGSNAT):c.851+19C>G
NM_152419.3(HGSNAT):c.851+19C>T rs1803714783
NM_152419.3(HGSNAT):c.852-13A>G rs2130766120
NM_152419.3(HGSNAT):c.852-16A>G
NM_152419.3(HGSNAT):c.852-7T>G rs2130766132
NM_152419.3(HGSNAT):c.852-8C>G
NM_152419.3(HGSNAT):c.888G>C (p.Ser296=)
NM_152419.3(HGSNAT):c.909G>A (p.Arg303=)
NM_152419.3(HGSNAT):c.90G>C (p.Gly30=) rs1187482453
NM_152419.3(HGSNAT):c.912G>T (p.Gly304=) rs771023375
NM_152419.3(HGSNAT):c.918A>G (p.Ser306=)
NM_152419.3(HGSNAT):c.933G>T (p.Leu311=) rs1458945407
NM_152419.3(HGSNAT):c.93C>G (p.Arg31=)
NM_152419.3(HGSNAT):c.93C>T (p.Arg31=)
NM_152419.3(HGSNAT):c.945A>T (p.Ala315=)
NM_152419.3(HGSNAT):c.951G>A (p.Arg317=) rs2130766469
NM_152419.3(HGSNAT):c.996T>C (p.Asn332=) rs1803883258
NM_152419.3(HGSNAT):c.999T>C (p.Tyr333=)
NM_152419.3(HGSNAT):c.99C>A (p.Ala33=) rs1586689721
NM_152419.3(HGSNAT):c.99C>G (p.Ala33=) rs1586689721
NM_152419.3(HGSNAT):c.99C>T (p.Ala33=)
NM_152419.3(HGSNAT):c.9G>A (p.Gly3=)

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.