ClinVar Miner

List of variants reported as likely benign for Mucopolysaccharidosis, MPS-III-D

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 390
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HGVS dbSNP gnomAD frequency
NM_002076.4(GNS):c.*599T>A rs151304792 0.01029
NM_002076.4(GNS):c.1598G>A (p.Arg533His) rs61743822 0.00929
NM_002076.4(GNS):c.*2751C>T rs137943279 0.00886
NM_002076.4(GNS):c.792+16A>G rs148924072 0.00415
NM_002076.4(GNS):c.1026G>A (p.Gln342=) rs115586725 0.00349
NM_002076.4(GNS):c.1453C>G (p.Pro485Ala) rs138790252 0.00079
NM_002076.4(GNS):c.117G>T (p.Gly39=) rs371407400 0.00043
NM_002076.4(GNS):c.4C>T (p.Arg2Trp) rs200441930 0.00033
NM_002076.4(GNS):c.468C>T (p.Ala156=) rs147780685 0.00031
NM_002076.4(GNS):c.1434C>G (p.Val478=) rs141958901 0.00028
NM_002076.4(GNS):c.1420-11A>G rs192263369 0.00013
NM_002076.4(GNS):c.577C>T (p.Arg193Trp) rs144220755 0.00011
NM_002076.4(GNS):c.1419+8G>A rs760970543 0.00010
NM_002076.4(GNS):c.624+10A>G rs757526895 0.00009
NM_002076.4(GNS):c.462C>T (p.Tyr154=) rs139536679 0.00008
NM_002076.4(GNS):c.1201-9T>C rs775176361 0.00007
NM_002076.4(GNS):c.156C>T (p.Leu52=) rs951936514 0.00006
NM_002076.4(GNS):c.30G>A (p.Arg10=) rs753033310 0.00006
NM_002076.4(GNS):c.525+14G>A rs774916170 0.00005
NM_002076.4(GNS):c.1420-9G>A rs980133508 0.00004
NM_002076.4(GNS):c.42C>T (p.Gly14=) rs925458413 0.00004
NM_002076.4(GNS):c.793-9A>G rs780164582 0.00004
NM_002076.4(GNS):c.875+16A>G rs375692142 0.00004
NM_002076.4(GNS):c.1155C>A (p.Asp385Glu) rs755021062 0.00003
NM_002076.4(GNS):c.708G>A (p.Ser236=) rs775884527 0.00003
NM_002076.4(GNS):c.792+12C>T rs749901174 0.00003
NM_002076.4(GNS):c.1189T>C (p.Leu397=) rs773031063 0.00002
NM_002076.4(GNS):c.1200+7A>G rs776624874 0.00002
NM_002076.4(GNS):c.1317C>T (p.Phe439=) rs780470761 0.00002
NM_002076.4(GNS):c.1506G>A (p.Lys502=) rs748361347 0.00002
NM_002076.4(GNS):c.306G>A (p.Lys102=) rs746164753 0.00002
NM_002076.4(GNS):c.526-7T>C rs1179720847 0.00002
NM_002076.4(GNS):c.687C>T (p.Ile229=) rs767396748 0.00002
NM_002076.4(GNS):c.995-15G>A rs200521875 0.00002
NM_002076.4(GNS):c.9C>T (p.Leu3=) rs1479493439 0.00002
NM_002076.4(GNS):c.1071T>C (p.Pro357=) rs779476775 0.00001
NM_002076.4(GNS):c.1089G>A (p.Gln363=) rs369866661 0.00001
NM_002076.4(GNS):c.1099-5C>T rs1277798355 0.00001
NM_002076.4(GNS):c.1104G>T (p.Leu368=) rs766168524 0.00001
NM_002076.4(GNS):c.1152C>T (p.Tyr384=) rs753238075 0.00001
NM_002076.4(GNS):c.1164G>A (p.Lys388=) rs1263703439 0.00001
NM_002076.4(GNS):c.1197T>C (p.Ile399=) rs1454694759 0.00001
NM_002076.4(GNS):c.1200+12G>A rs771806213 0.00001
NM_002076.4(GNS):c.1200+8T>G rs768052687 0.00001
NM_002076.4(GNS):c.1201-7T>C rs771699876 0.00001
NM_002076.4(GNS):c.1227A>T (p.Arg409=) rs1417176156 0.00001
NM_002076.4(GNS):c.1266C>T (p.Asn422=) rs770070081 0.00001
NM_002076.4(GNS):c.12G>A (p.Leu4=) rs1252707980 0.00001
NM_002076.4(GNS):c.1302C>A (p.Gly434=) rs747491925 0.00001
NM_002076.4(GNS):c.1302C>T (p.Gly434=) rs747491925 0.00001
NM_002076.4(GNS):c.1329A>G (p.Val443=) rs745896040 0.00001
NM_002076.4(GNS):c.1368G>A (p.Arg456=) rs201966474 0.00001
NM_002076.4(GNS):c.1381T>C (p.Leu461=) rs765783864 0.00001
NM_002076.4(GNS):c.1420-7C>T rs764819766 0.00001
NM_002076.4(GNS):c.1452C>T (p.Asp484=) rs1252524521 0.00001
NM_002076.4(GNS):c.150G>A (p.Val50=) rs1260892915 0.00001
NM_002076.4(GNS):c.1512C>T (p.Asn504=) rs781191329 0.00001
NM_002076.4(GNS):c.1578C>T (p.Pro526=) rs753472052 0.00001
NM_002076.4(GNS):c.1654C>T (p.Leu552=) rs751913045 0.00001
NM_002076.4(GNS):c.16C>T (p.Leu6=) rs746189087 0.00001
NM_002076.4(GNS):c.264T>C (p.Ser88=) rs1869945578 0.00001
NM_002076.4(GNS):c.282C>T (p.Ser94=) rs1318657728 0.00001
NM_002076.4(GNS):c.324C>T (p.His108=) rs748968142 0.00001
NM_002076.4(GNS):c.351C>T (p.Asn117=) rs748055773 0.00001
NM_002076.4(GNS):c.381A>G (p.Gln127=) rs374002057 0.00001
NM_002076.4(GNS):c.459+8G>A rs199789530 0.00001
NM_002076.4(GNS):c.45C>T (p.Ser15=) rs749771186 0.00001
NM_002076.4(GNS):c.492C>T (p.His164=) rs773419903 0.00001
NM_002076.4(GNS):c.525+10T>C rs375745502 0.00001
NM_002076.4(GNS):c.528A>G (p.Glu176=) rs771492549 0.00001
NM_002076.4(GNS):c.552C>T (p.Tyr184=) rs375799237 0.00001
NM_002076.4(GNS):c.558G>A (p.Leu186=) rs200414276 0.00001
NM_002076.4(GNS):c.57G>A (p.Leu19=) rs1332308897 0.00001
NM_002076.4(GNS):c.625-17A>G rs950921191 0.00001
NM_002076.4(GNS):c.699G>A (p.Ala233=) rs762468558 0.00001
NM_002076.4(GNS):c.875+9T>C rs774743479 0.00001
NM_002076.4(GNS):c.942G>A (p.Gly314=) rs376505567 0.00001
NM_002076.4(GNS):c.9C>G (p.Leu3=) rs1479493439 0.00001
NM_002076.4(GNS):c.1017C>T (p.Asp339=)
NM_002076.4(GNS):c.1027C>T (p.Leu343=) rs2136244455
NM_002076.4(GNS):c.1029G>A (p.Leu343=) rs371914257
NM_002076.4(GNS):c.1032T>C (p.Tyr344=)
NM_002076.4(GNS):c.103C>T (p.Leu35=)
NM_002076.4(GNS):c.1056G>A (p.Leu352=) rs754626354
NM_002076.4(GNS):c.1056G>C (p.Leu352=)
NM_002076.4(GNS):c.105G>A (p.Leu35=)
NM_002076.4(GNS):c.1068A>G (p.Gly356=)
NM_002076.4(GNS):c.108G>T (p.Gly36=) rs1870387135
NM_002076.4(GNS):c.1098+17C>G
NM_002076.4(GNS):c.1098+19G>A
NM_002076.4(GNS):c.1098+7G>A rs945038474
NM_002076.4(GNS):c.1099-10A>C rs2136240601
NM_002076.4(GNS):c.1099-10A>G rs2136240601
NM_002076.4(GNS):c.1099-13C>T
NM_002076.4(GNS):c.1099-17T>C rs2136240606
NM_002076.4(GNS):c.1099-19T>C
NM_002076.4(GNS):c.1099-4A>G
NM_002076.4(GNS):c.1099-4A>T rs1221669137
NM_002076.4(GNS):c.1099-6T>C rs2136240597
NM_002076.4(GNS):c.1102C>T (p.Leu368=)
NM_002076.4(GNS):c.1104G>C (p.Leu368=) rs766168524
NM_002076.4(GNS):c.1110C>G (p.Ala370=)
NM_002076.4(GNS):c.1110C>T (p.Ala370=)
NM_002076.4(GNS):c.111C>A (p.Val37=) rs1156605468
NM_002076.4(GNS):c.1122G>A (p.Leu374=)
NM_002076.4(GNS):c.1131T>C (p.Thr377=)
NM_002076.4(GNS):c.1140C>T (p.Asp380=) rs749616788
NM_002076.4(GNS):c.1143T>A (p.Ile381=)
NM_002076.4(GNS):c.1143T>C (p.Ile381=)
NM_002076.4(GNS):c.1179G>A (p.Gly393=) rs2136240521
NM_002076.4(GNS):c.1194C>G (p.Pro398=)
NM_002076.4(GNS):c.1200+11C>A rs775301317
NM_002076.4(GNS):c.1200+11C>T
NM_002076.4(GNS):c.1200+14C>T
NM_002076.4(GNS):c.1200+15C>G
NM_002076.4(GNS):c.1200+15C>T
NM_002076.4(GNS):c.1200+18A>G
NM_002076.4(GNS):c.1200+8T>C
NM_002076.4(GNS):c.1201-10T>C
NM_002076.4(GNS):c.1201-11C>T
NM_002076.4(GNS):c.1201-11_1201-10del
NM_002076.4(GNS):c.1201-12T>C
NM_002076.4(GNS):c.1201-13C>T
NM_002076.4(GNS):c.1201-17C>T
NM_002076.4(GNS):c.1201-4C>G
NM_002076.4(GNS):c.1201-4C>T rs2136237942
NM_002076.4(GNS):c.1212T>C (p.Ser404=) rs2136237933
NM_002076.4(GNS):c.1215C>T (p.Asn405=) rs1425989538
NM_002076.4(GNS):c.1216T>C (p.Leu406=)
NM_002076.4(GNS):c.1221C>T (p.Thr407=) rs773323544
NM_002076.4(GNS):c.1245A>G (p.Glu415=)
NM_002076.4(GNS):c.1269C>T (p.Val423=)
NM_002076.4(GNS):c.1281A>G (p.Thr427=)
NM_002076.4(GNS):c.1305A>G (p.Val435=) rs1259126055
NM_002076.4(GNS):c.1308+14T>G
NM_002076.4(GNS):c.1308+15del
NM_002076.4(GNS):c.1308+7A>C
NM_002076.4(GNS):c.1308+8A>T
NM_002076.4(GNS):c.1308+9T>C
NM_002076.4(GNS):c.1309-15G>T
NM_002076.4(GNS):c.1309-15del
NM_002076.4(GNS):c.1309-16T>C
NM_002076.4(GNS):c.1309-20C>T
NM_002076.4(GNS):c.1309-4A>T
NM_002076.4(GNS):c.1309-6C>T rs1592491918
NM_002076.4(GNS):c.1309-9T>C rs1869033080
NM_002076.4(GNS):c.1320A>G (p.Pro440=)
NM_002076.4(GNS):c.1326T>C (p.Cys442=)
NM_002076.4(GNS):c.132C>G (p.Thr44=) rs1592514574
NM_002076.4(GNS):c.133C>A (p.Arg45=) rs1870385540
NM_002076.4(GNS):c.1341T>G (p.Ala447=)
NM_002076.4(GNS):c.1353C>A (p.Thr451=) rs749445364
NM_002076.4(GNS):c.1371A>C (p.Thr457=)
NM_002076.4(GNS):c.1377A>G (p.Ser459=)
NM_002076.4(GNS):c.1380A>G (p.Ala460=)
NM_002076.4(GNS):c.1398T>C (p.Tyr466=) rs2136237264
NM_002076.4(GNS):c.1401C>T (p.Cys467=)
NM_002076.4(GNS):c.1419+14C>T
NM_002076.4(GNS):c.1419+17C>T
NM_002076.4(GNS):c.1419+20G>A
NM_002076.4(GNS):c.1419+7G>A
NM_002076.4(GNS):c.1419+7G>C
NM_002076.4(GNS):c.1420-13T>C
NM_002076.4(GNS):c.1420-16C>G
NM_002076.4(GNS):c.1420-16C>T
NM_002076.4(GNS):c.1420-19A>C
NM_002076.4(GNS):c.1420-19A>T rs2136236660
NM_002076.4(GNS):c.1420-6C>T rs2136236651
NM_002076.4(GNS):c.1441C>T (p.Leu481=) rs2136236637
NM_002076.4(GNS):c.1446T>A (p.Thr482=)
NM_002076.4(GNS):c.144C>T (p.Asn48=) rs2136259327
NM_002076.4(GNS):c.1455A>G (p.Pro485=)
NM_002076.4(GNS):c.1458C>T (p.Asp486=) rs2136236622
NM_002076.4(GNS):c.1473T>A (p.Ile491=) rs2136236609
NM_002076.4(GNS):c.147G>A (p.Val49=)
NM_002076.4(GNS):c.1488C>T (p.Asp496=)
NM_002076.4(GNS):c.1491A>G (p.Pro497=) rs2136236596
NM_002076.4(GNS):c.1503A>C (p.Gly501=)
NM_002076.4(GNS):c.1518G>A (p.Arg506=) rs1000381159
NM_002076.4(GNS):c.1518G>T (p.Arg506=) rs1000381159
NM_002076.4(GNS):c.1539T>C (p.Cys513=)
NM_002076.4(GNS):c.153G>C (p.Leu51=)
NM_002076.4(GNS):c.1560T>G (p.Thr520=)
NM_002076.4(GNS):c.156C>G (p.Leu52=) rs951936514
NM_002076.4(GNS):c.1575C>T (p.Asp525=) rs2136236573
NM_002076.4(GNS):c.1578C>A (p.Pro526=)
NM_002076.4(GNS):c.1578C>G (p.Pro526=)
NM_002076.4(GNS):c.1580+10C>T rs2136236567
NM_002076.4(GNS):c.1580+12T>G
NM_002076.4(GNS):c.1580+13T>C
NM_002076.4(GNS):c.1580+17T>C rs2136236562
NM_002076.4(GNS):c.1580+9C>G rs1429111979
NM_002076.4(GNS):c.1581-14T>C
NM_002076.4(GNS):c.1581-15G>A
NM_002076.4(GNS):c.1581-20A>G
NM_002076.4(GNS):c.1581-5C>G
NM_002076.4(GNS):c.1584C>T (p.Tyr528=)
NM_002076.4(GNS):c.1596C>T (p.Pro532=)
NM_002076.4(GNS):c.159C>T (p.Leu53=) rs2136259284
NM_002076.4(GNS):c.15T>C (p.Pro5=)
NM_002076.4(GNS):c.1617C>T (p.Arg539=) rs1592489447
NM_002076.4(GNS):c.1623T>C (p.Ser541=) rs2136235293
NM_002076.4(GNS):c.1626C>T (p.Val542=)
NM_002076.4(GNS):c.1629G>A (p.Arg543=) rs778448292
NM_002076.4(GNS):c.162G>C (p.Thr54=)
NM_002076.4(GNS):c.1656G>A (p.Leu552=) rs1382653749
NM_002076.4(GNS):c.165C>T (p.Asp55=) rs1345914923
NM_002076.4(GNS):c.174C>T (p.Asp58=)
NM_002076.4(GNS):c.183C>G (p.Leu61=)
NM_002076.4(GNS):c.18A>G (p.Leu6=) rs2136259594
NM_002076.4(GNS):c.192+10C>T
NM_002076.4(GNS):c.192+10_192+11del rs1592514466
NM_002076.4(GNS):c.192+12G>T rs1870381062
NM_002076.4(GNS):c.192+15T>A
NM_002076.4(GNS):c.192+16C>T
NM_002076.4(GNS):c.192+19C>T rs1870380285
NM_002076.4(GNS):c.192+7_192+8del
NM_002076.4(GNS):c.192+8T>A
NM_002076.4(GNS):c.192+8T>C rs2136259214
NM_002076.4(GNS):c.193-10_193-7del
NM_002076.4(GNS):c.193-13C>T
NM_002076.4(GNS):c.193-15T>G
NM_002076.4(GNS):c.193-7T>C
NM_002076.4(GNS):c.198G>T (p.Pro66=) rs1147096
NM_002076.4(GNS):c.201A>G (p.Leu67=)
NM_002076.4(GNS):c.219C>A (p.Leu73=) rs376829383
NM_002076.4(GNS):c.222C>A (p.Ile74=)
NM_002076.4(GNS):c.222C>T (p.Ile74=) rs1375026446
NM_002076.4(GNS):c.246C>T (p.Ser82=) rs2136253254
NM_002076.4(GNS):c.24A>G (p.Pro8=) rs2136259580
NM_002076.4(GNS):c.252+20C>G
NM_002076.4(GNS):c.252+20C>T
NM_002076.4(GNS):c.253-11T>C rs557641309
NM_002076.4(GNS):c.253-11T>G
NM_002076.4(GNS):c.253-15del
NM_002076.4(GNS):c.253-17C>T
NM_002076.4(GNS):c.253-5T>C
NM_002076.4(GNS):c.253-6T>C
NM_002076.4(GNS):c.255T>C (p.Tyr85=) rs765701552
NM_002076.4(GNS):c.270C>T (p.Leu90=)
NM_002076.4(GNS):c.276C>T (p.Cys92=)
NM_002076.4(GNS):c.279C>T (p.Pro93=) rs1592506570
NM_002076.4(GNS):c.294C>T (p.Ile98=)
NM_002076.4(GNS):c.295C>T (p.Leu99=)
NM_002076.4(GNS):c.297G>A (p.Leu99=) rs1565627083
NM_002076.4(GNS):c.300A>G (p.Thr100=) rs370542872
NM_002076.4(GNS):c.30G>T (p.Arg10=)
NM_002076.4(GNS):c.321T>C (p.His107=)
NM_002076.4(GNS):c.327T>A (p.Val109=)
NM_002076.4(GNS):c.339T>A (p.Thr113=) rs1869942986
NM_002076.4(GNS):c.345G>A (p.Glu115=)
NM_002076.4(GNS):c.348G>A (p.Gly116=)
NM_002076.4(GNS):c.360T>C (p.Ser120=) rs2136249902
NM_002076.4(GNS):c.372G>A (p.Gln124=)
NM_002076.4(GNS):c.384A>G (p.Glu128=)
NM_002076.4(GNS):c.393T>A (p.Thr131=)
NM_002076.4(GNS):c.393T>C (p.Thr131=) rs1869940104
NM_002076.4(GNS):c.393T>G (p.Thr131=)
NM_002076.4(GNS):c.39G>A (p.Arg13=) rs956710996
NM_002076.4(GNS):c.447A>G (p.Lys149=)
NM_002076.4(GNS):c.459+10A>G rs762826979
NM_002076.4(GNS):c.459+11T>C
NM_002076.4(GNS):c.459+11_459+14del
NM_002076.4(GNS):c.459+12G>C
NM_002076.4(GNS):c.459+14T>A
NM_002076.4(GNS):c.459+16T>G
NM_002076.4(GNS):c.459+18T>C
NM_002076.4(GNS):c.459+8G>T rs199789530
NM_002076.4(GNS):c.460-10T>C
NM_002076.4(GNS):c.460-17C>T
NM_002076.4(GNS):c.460-20C>G
NM_002076.4(GNS):c.460-20C>T
NM_002076.4(GNS):c.460-4T>G rs2136248910
NM_002076.4(GNS):c.460-5T>G
NM_002076.4(GNS):c.468C>A (p.Ala156=) rs147780685
NM_002076.4(GNS):c.471A>G (p.Pro157=) rs2136248890
NM_002076.4(GNS):c.477A>G (p.Ala159=)
NM_002076.4(GNS):c.486A>G (p.Leu162=) rs766459418
NM_002076.4(GNS):c.48C>G (p.Pro16=) rs2136259544
NM_002076.4(GNS):c.498T>C (p.Pro166=) rs2136248867
NM_002076.4(GNS):c.504T>C (p.Gly168=)
NM_002076.4(GNS):c.510T>C (p.Ser170=)
NM_002076.4(GNS):c.513C>T (p.Tyr171=)
NM_002076.4(GNS):c.522C>T (p.Ala174=) rs2136248842
NM_002076.4(GNS):c.525+12T>C
NM_002076.4(GNS):c.525+16A>T
NM_002076.4(GNS):c.525+19C>T
NM_002076.4(GNS):c.525+20T>C rs1428097709
NM_002076.4(GNS):c.526-11C>T rs2136248437
NM_002076.4(GNS):c.526-16T>C
NM_002076.4(GNS):c.537T>G (p.Ser179=)
NM_002076.4(GNS):c.54C>T (p.His18=) rs2136259524
NM_002076.4(GNS):c.55C>T (p.Leu19=) rs1307936431
NM_002076.4(GNS):c.561T>A (p.Ser187=)
NM_002076.4(GNS):c.561T>C (p.Ser187=)
NM_002076.4(GNS):c.585T>C (p.His195=) rs1322850279
NM_002076.4(GNS):c.600T>C (p.Ser200=) rs2136248388
NM_002076.4(GNS):c.60C>T (p.Pro20=)
NM_002076.4(GNS):c.624+11G>A
NM_002076.4(GNS):c.624+13A>G
NM_002076.4(GNS):c.624+14G>C
NM_002076.4(GNS):c.624+14G>T
NM_002076.4(GNS):c.624+16T>G
NM_002076.4(GNS):c.624+20T>A
NM_002076.4(GNS):c.624+7T>G
NM_002076.4(GNS):c.624+9C>T
NM_002076.4(GNS):c.625-11T>G
NM_002076.4(GNS):c.625-13T>A rs1195674881
NM_002076.4(GNS):c.625-16T>A
NM_002076.4(GNS):c.625-18A>G
NM_002076.4(GNS):c.625-5G>C rs2136247669
NM_002076.4(GNS):c.627T>A (p.Ala209=) rs772521115
NM_002076.4(GNS):c.633C>A (p.Val211=) rs367799685
NM_002076.4(GNS):c.633C>G (p.Val211=)
NM_002076.4(GNS):c.636C>G (p.Ser212=)
NM_002076.4(GNS):c.63C>T (p.Ser21=)
NM_002076.4(GNS):c.645T>C (p.Phe215=) rs1193339932
NM_002076.4(GNS):c.663C>T (p.Asn221=) rs2136247641
NM_002076.4(GNS):c.666T>C (p.Phe222=)
NM_002076.4(GNS):c.669G>A (p.Glu223=)
NM_002076.4(GNS):c.66C>T (p.Cys22=)
NM_002076.4(GNS):c.672C>T (p.Pro224=)
NM_002076.4(GNS):c.675C>T (p.Phe225=)
NM_002076.4(GNS):c.705T>C (p.His235=) rs2136247609
NM_002076.4(GNS):c.708G>T (p.Ser236=)
NM_002076.4(GNS):c.717A>G (p.Thr239=) rs1263645910
NM_002076.4(GNS):c.717A>T (p.Thr239=)
NM_002076.4(GNS):c.720T>C (p.Ala240=) rs2136247587
NM_002076.4(GNS):c.720T>G (p.Ala240=) rs2136247587
NM_002076.4(GNS):c.723A>C (p.Ala241=) rs770999308
NM_002076.4(GNS):c.723A>G (p.Ala241=) rs770999308
NM_002076.4(GNS):c.738G>A (p.Lys246=)
NM_002076.4(GNS):c.744C>T (p.Phe248=)
NM_002076.4(GNS):c.750T>C (p.Asn250=) rs752828899
NM_002076.4(GNS):c.762A>G (p.Pro254=) rs2136247555
NM_002076.4(GNS):c.763A>C (p.Arg255=) rs754806632
NM_002076.4(GNS):c.76C>T (p.Leu26=)
NM_002076.4(GNS):c.783C>T (p.Ile261=) rs2136247536
NM_002076.4(GNS):c.789A>G (p.Gly263=) rs2136247530
NM_002076.4(GNS):c.78G>A (p.Leu26=)
NM_002076.4(GNS):c.792+12C>G
NM_002076.4(GNS):c.792+13A>G
NM_002076.4(GNS):c.792+9C>T rs2136247523
NM_002076.4(GNS):c.793-11C>T
NM_002076.4(GNS):c.798G>A (p.Lys266=)
NM_002076.4(GNS):c.801C>T (p.His267=) rs758411953
NM_002076.4(GNS):c.825T>C (p.Thr275=)
NM_002076.4(GNS):c.828A>G (p.Pro276=) rs756712675
NM_002076.4(GNS):c.82C>T (p.Leu28=)
NM_002076.4(GNS):c.837T>C (p.Asn279=)
NM_002076.4(GNS):c.849G>A (p.Gln283=)
NM_002076.4(GNS):c.855A>G (p.Leu285=) rs2136246141
NM_002076.4(GNS):c.858T>C (p.Asp286=) rs2136246138
NM_002076.4(GNS):c.85C>T (p.Leu29=) rs1245676297
NM_002076.4(GNS):c.861T>C (p.Asn287=)
NM_002076.4(GNS):c.873A>G (p.Lys291=)
NM_002076.4(GNS):c.875+11C>G
NM_002076.4(GNS):c.875+14C>A
NM_002076.4(GNS):c.875+17C>G
NM_002076.4(GNS):c.875+18A>G rs748171659
NM_002076.4(GNS):c.875+20A>G
NM_002076.4(GNS):c.875+7G>A rs968486495
NM_002076.4(GNS):c.875+7GCT[4]
NM_002076.4(GNS):c.875+9dup
NM_002076.4(GNS):c.876-17C>T rs2136245561
NM_002076.4(GNS):c.876-19A>G
NM_002076.4(GNS):c.876-5del rs2136245551
NM_002076.4(GNS):c.876-8A>C
NM_002076.4(GNS):c.876-8A>G rs1869660466
NM_002076.4(GNS):c.87G>T (p.Leu29=) rs2136259446
NM_002076.4(GNS):c.882A>G (p.Gln294=) rs2136245535
NM_002076.4(GNS):c.903C>T (p.Asp301=) rs761143788
NM_002076.4(GNS):c.906T>C (p.Leu302=) rs2136245524
NM_002076.4(GNS):c.915A>G (p.Lys305=) rs766823105
NM_002076.4(GNS):c.918G>A (p.Leu306=)
NM_002076.4(GNS):c.921C>G (p.Val307=)
NM_002076.4(GNS):c.921C>T (p.Val307=)
NM_002076.4(GNS):c.927G>A (p.Arg309=)
NM_002076.4(GNS):c.939T>G (p.Thr313=) rs1869657867
NM_002076.4(GNS):c.951C>T (p.Asn317=)
NM_002076.4(GNS):c.960C>T (p.Tyr320=) rs775564692
NM_002076.4(GNS):c.96C>A (p.Gly32=)
NM_002076.4(GNS):c.96C>T (p.Gly32=)
NM_002076.4(GNS):c.975A>G (p.Ser325=)
NM_002076.4(GNS):c.978C>T (p.Asp326=) rs2136245486
NM_002076.4(GNS):c.994+15T>G rs1592501849
NM_002076.4(GNS):c.994+7G>A
NM_002076.4(GNS):c.995-13G>A
NM_002076.4(GNS):c.995-19T>G
NM_002076.4(GNS):c.995-4T>G

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.