ClinVar Miner

List of variants studied for Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V

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ClinVar version:
Total variants: 205
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HGVS dbSNP
NC_000017.10:g.(?_40690347)_(40690783_?)del
NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe) rs749140168
NM_000263.4(NAGLU):c.1021+8G>T
NM_000263.4(NAGLU):c.1032G>A (p.Glu344=) rs771833491
NM_000263.4(NAGLU):c.104T>C (p.Leu35Pro)
NM_000263.4(NAGLU):c.1068C>T (p.His356=)
NM_000263.4(NAGLU):c.1073C>T (p.Pro358Leu) rs368687817
NM_000263.4(NAGLU):c.1074G>A (p.Pro358=)
NM_000263.4(NAGLU):c.1081T>C (p.Trp361Arg)
NM_000263.4(NAGLU):c.1086G>A (p.Gly362=) rs754413995
NM_000263.4(NAGLU):c.1090G>T (p.Ala364Ser) rs1459252305
NM_000263.4(NAGLU):c.1093C>T (p.Gln365Ter) rs1555622242
NM_000263.4(NAGLU):c.1107G>T (p.Val369=)
NM_000263.4(NAGLU):c.1113A>G (p.Gly371=) rs1469438575
NM_000263.4(NAGLU):c.1119G>T (p.Val373=) rs371656965
NM_000263.4(NAGLU):c.1124G>A (p.Arg375His)
NM_000263.4(NAGLU):c.1149G>A (p.Leu383=)
NM_000263.4(NAGLU):c.114G>C (p.Arg38=)
NM_000263.4(NAGLU):c.1162C>T (p.Gln388Ter)
NM_000263.4(NAGLU):c.1163_1166dup (p.Val390fs)
NM_000263.4(NAGLU):c.1176C>T (p.Thr392=)
NM_000263.4(NAGLU):c.1200G>A (p.Gln400=)
NM_000263.4(NAGLU):c.1211G>A (p.Trp404Ter) rs904672363
NM_000263.4(NAGLU):c.1224C>T (p.His408=)
NM_000263.4(NAGLU):c.1233G>T (p.Gly411=)
NM_000263.4(NAGLU):c.123G>T (p.Gly41=)
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg) rs768814260
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=) rs200715586
NM_000263.4(NAGLU):c.1277G>A (p.Gly426Asp) rs771151036
NM_000263.4(NAGLU):c.1288_1289del (p.Ala430fs)
NM_000263.4(NAGLU):c.1290C>T (p.Ala430=)
NM_000263.4(NAGLU):c.1299C>T (p.Phe433=)
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser) rs764815033
NM_000263.4(NAGLU):c.1305C>T (p.Asn435=)
NM_000263.4(NAGLU):c.1308C>T (p.Ser436=)
NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met) rs138695961
NM_000263.4(NAGLU):c.1323G>A (p.Thr441=)
NM_000263.4(NAGLU):c.1326C>A (p.Gly442=)
NM_000263.4(NAGLU):c.1335C>T (p.Pro445=) rs202033889
NM_000263.4(NAGLU):c.1344C>T (p.Ile448=)
NM_000263.4(NAGLU):c.1346G>A (p.Ser449Asn) rs114605439
NM_000263.4(NAGLU):c.1353C>T (p.Asn451=) rs200029453
NM_000263.4(NAGLU):c.1354G>A (p.Glu452Lys)
NM_000263.4(NAGLU):c.136del (p.Ala46fs)
NM_000263.4(NAGLU):c.1386C>G (p.Gly462=)
NM_000263.4(NAGLU):c.1390C>T (p.Arg464Ter) rs138387856
NM_000263.4(NAGLU):c.1401A>G (p.Pro467=) rs143938936
NM_000263.4(NAGLU):c.1407A>G (p.Pro469=)
NM_000263.4(NAGLU):c.1425del (p.Thr476fs) rs1250949842
NM_000263.4(NAGLU):c.1430G>C (p.Ser477Thr)
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr) rs147293270
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp) rs104894596
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=) rs115994665
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs) rs778021009
NM_000263.4(NAGLU):c.1452G>A (p.Gly484=)
NM_000263.4(NAGLU):c.1453dup (p.Val485fs)
NM_000263.4(NAGLU):c.145_147del (p.Ser49del)
NM_000263.4(NAGLU):c.1464G>A (p.Pro488=) rs140956564
NM_000263.4(NAGLU):c.1467C>T (p.Asp489=) rs115550028
NM_000263.4(NAGLU):c.1479G>A (p.Ala493=) rs113379621
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro) rs569519789
NM_000263.4(NAGLU):c.1488A>G (p.Leu496=) rs752971320
NM_000263.4(NAGLU):c.1501G>A (p.Val501Met)
NM_000263.4(NAGLU):c.1503G>A (p.Val501=) rs537078152
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577
NM_000263.4(NAGLU):c.153G>C (p.Ser51=)
NM_000263.4(NAGLU):c.1542T>C (p.Arg514=)
NM_000263.4(NAGLU):c.1557G>A (p.Arg519=) rs150905331
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) rs104894595
NM_000263.4(NAGLU):c.1563G>A (p.Pro521=) rs61737297
NM_000263.4(NAGLU):c.1565C>T (p.Ser522Phe)
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter) rs1244655820
NM_000263.4(NAGLU):c.1617C>T (p.Ala539=) rs149875730
NM_000263.4(NAGLU):c.1621C>A (p.Arg541=)
NM_000263.4(NAGLU):c.1624C>T (p.Leu542=)
NM_000263.4(NAGLU):c.1644C>G (p.Pro548=)
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=) rs368521316
NM_000263.4(NAGLU):c.1677C>T (p.Asp559=) rs760741593
NM_000263.4(NAGLU):c.1686C>T (p.Asp562=)
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp) rs104894597
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln) rs104894598
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu) rs104894598
NM_000263.4(NAGLU):c.1701A>G (p.Ala567=)
NM_000263.4(NAGLU):c.170C>G (p.Ala57Gly) rs181735466
NM_000263.4(NAGLU):c.1770C>T (p.Ser590=)
NM_000263.4(NAGLU):c.1788C>G (p.Gly596=)
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=) rs115166595
NM_000263.4(NAGLU):c.1794G>A (p.Leu598=)
NM_000263.4(NAGLU):c.1797C>G (p.Ala599=) rs146715254
NM_000263.4(NAGLU):c.1828C>T (p.Leu610=)
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970
NM_000263.4(NAGLU):c.1839C>T (p.Asp613=)
NM_000263.4(NAGLU):c.183C>G (p.Gly61=)
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=) rs151013014
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter) rs104894591
NM_000263.4(NAGLU):c.1888G>T (p.Val630Phe)
NM_000263.4(NAGLU):c.1890C>G (p.Val630=)
NM_000263.4(NAGLU):c.1899C>T (p.Ala633=) rs767268083
NM_000263.4(NAGLU):c.18G>C (p.Val6=)
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys) rs147036053
NM_000263.4(NAGLU):c.1905C>T (p.Ala635=)
NM_000263.4(NAGLU):c.1914C>T (p.Tyr638=)
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys) rs104894594
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His) rs104894593
NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter) rs527236038
NM_000263.4(NAGLU):c.1946G>T (p.Trp649Leu) rs527236038
NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu) rs527236037
NM_000263.4(NAGLU):c.1950G>A (p.Gly650=)
NM_000263.4(NAGLU):c.1973A>G (p.Tyr658Cys) rs1230894568
NM_000263.4(NAGLU):c.1980C>T (p.Asn660=)
NM_000263.4(NAGLU):c.1983G>A (p.Lys661=) rs181021573
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys) rs763299645
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) rs104894590
NM_000263.4(NAGLU):c.202_203insCCG (p.Gly68_Gly69insAla) rs1469781984
NM_000263.4(NAGLU):c.2042C>T (p.Ala681Val) rs540744217
NM_000263.4(NAGLU):c.2043G>A (p.Ala681=) rs115401566
NM_000263.4(NAGLU):c.2083C>T (p.His695Tyr)
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter) rs752527478
NM_000263.4(NAGLU):c.2124C>T (p.Phe708=)
NM_000263.4(NAGLU):c.214_237del (p.Ala72_Gly79del) rs1567890245
NM_000263.4(NAGLU):c.214_237dup (p.Ala72_Gly79dup)
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=) rs114687267
NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln)
NM_000263.4(NAGLU):c.219G>A (p.Ala73=)
NM_000263.4(NAGLU):c.2201_2204dup (p.Tyr735Ter)
NM_000263.4(NAGLU):c.2208_2209delinsTG (p.Arg737Gly)
NM_000263.4(NAGLU):c.2220C>T (p.Ala740=)
NM_000263.4(NAGLU):c.222_223del (p.Val75fs)
NM_000263.4(NAGLU):c.223G>C (p.Val75Leu)
NM_000263.4(NAGLU):c.239C>T (p.Ser80Phe)
NM_000263.4(NAGLU):c.241A>G (p.Thr81Ala)
NM_000263.4(NAGLU):c.255C>T (p.Ala85=)
NM_000263.4(NAGLU):c.265C>T (p.Leu89=)
NM_000263.4(NAGLU):c.270C>T (p.His90=)
NM_000263.4(NAGLU):c.277C>A (p.Leu93Met)
NM_000263.4(NAGLU):c.282C>T (p.Arg94=) rs866267579
NM_000263.4(NAGLU):c.28G>A (p.Val10Met)
NM_000263.4(NAGLU):c.313G>A (p.Gly105Ser)
NM_000263.4(NAGLU):c.345A>G (p.Pro115=)
NM_000263.4(NAGLU):c.348C>T (p.Ala116=) rs559674042
NM_000263.4(NAGLU):c.351G>T (p.Val117=) rs1436378685
NM_000263.4(NAGLU):c.353C>T (p.Pro118Leu)
NM_000263.4(NAGLU):c.358G>T (p.Glu120Ter) rs1445294968
NM_000263.4(NAGLU):c.366C>A (p.Thr122=)
NM_000263.4(NAGLU):c.366C>G (p.Thr122=)
NM_000263.4(NAGLU):c.367G>T (p.Glu123Ter) rs796052123
NM_000263.4(NAGLU):c.383+7C>T rs768602711
NM_000263.4(NAGLU):c.384-5C>T
NM_000263.4(NAGLU):c.384-8G>A
NM_000263.4(NAGLU):c.408C>T (p.Cys136=)
NM_000263.4(NAGLU):c.417C>T (p.Ser139=)
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) rs753520553
NM_000263.4(NAGLU):c.421T>A (p.Ser141Thr) rs61737294
NM_000263.4(NAGLU):c.432G>A (p.Trp144Ter)
NM_000263.4(NAGLU):c.454C>T (p.Arg152Ter)
NM_000263.4(NAGLU):c.455G>A (p.Arg152Gln) rs141018386
NM_000263.4(NAGLU):c.457G>A (p.Glu153Lys)
NM_000263.4(NAGLU):c.459G>A (p.Glu153=)
NM_000263.4(NAGLU):c.459G>C (p.Glu153Asp)
NM_000263.4(NAGLU):c.474G>T (p.Ala158=)
NM_000263.4(NAGLU):c.47C>T (p.Ala16Val)
NM_000263.4(NAGLU):c.48C>T (p.Ala16=) rs1312488945
NM_000263.4(NAGLU):c.49_73dup (p.Glu25fs)
NM_000263.4(NAGLU):c.502T>C (p.Trp168Arg)
NM_000263.4(NAGLU):c.507_516del (p.Ser169fs) rs483352897
NM_000263.4(NAGLU):c.510C>T (p.Gly170=) rs375661192
NM_000263.4(NAGLU):c.531+1G>A
NM_000263.4(NAGLU):c.532-1G>C
NM_000263.4(NAGLU):c.54_60dup (p.Ala21fs)
NM_000263.4(NAGLU):c.569A>G (p.Asn190Ser) rs375458666
NM_000263.4(NAGLU):c.59G>T (p.Gly20Val)
NM_000263.4(NAGLU):c.603G>A (p.Trp201Ter)
NM_000263.4(NAGLU):c.648C>G (p.Pro216=)
NM_000263.4(NAGLU):c.675G>T (p.Leu225=) rs115680529
NM_000263.4(NAGLU):c.679-5T>C
NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter) rs886043792
NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys) rs104894601
NM_000263.4(NAGLU):c.701G>A (p.Arg234His) rs886042073
NM_000263.4(NAGLU):c.701G>T (p.Arg234Leu)
NM_000263.4(NAGLU):c.702C>T (p.Arg234=)
NM_000263.4(NAGLU):c.708C>T (p.Phe236=) rs770221835
NM_000263.4(NAGLU):c.71_87del (p.Asp24fs)
NM_000263.4(NAGLU):c.720A>C (p.Pro240=)
NM_000263.4(NAGLU):c.723G>A (p.Val241=) rs140945842
NM_000263.4(NAGLU):c.750C>G (p.Pro250=)
NM_000263.4(NAGLU):c.753G>A (p.Glu251=)
NM_000263.4(NAGLU):c.764+10C>T rs372400832
NM_000263.4(NAGLU):c.771C>T (p.Phe257=) rs1599258298
NM_000263.4(NAGLU):c.780C>T (p.Val260=) rs1411789843
NM_000263.4(NAGLU):c.78C>G (p.Ala26=)
NM_000263.4(NAGLU):c.801T>C (p.Ser267=)
NM_000263.4(NAGLU):c.827C>T (p.Ser276Phe)
NM_000263.4(NAGLU):c.82_114del (p.Glu28_Arg38del)
NM_000263.4(NAGLU):c.848C>T (p.Pro283Leu)
NM_000263.4(NAGLU):c.871A>C (p.Ile291Leu) rs199625480
NM_000263.4(NAGLU):c.873C>T (p.Ile291=) rs146734024
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592
NM_000263.4(NAGLU):c.902_903del (p.Lys301fs)
NM_000263.4(NAGLU):c.909T>C (p.Phe303=)
NM_000263.4(NAGLU):c.926A>G (p.Tyr309Cys)
NM_000263.4(NAGLU):c.927T>C (p.Tyr309=) rs1599258507
NM_000263.4(NAGLU):c.933C>G (p.Ala311=) rs115888189
NM_000263.4(NAGLU):c.957A>T (p.Pro319=)
NM_000263.4(NAGLU):c.984C>T (p.Ala328=)
NM_000263.4(NAGLU):c.9GGTGGC[3] (p.4VA[3]) rs1024697806

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