ClinVar Miner

List of variants in gene combination LOC130060903, NAGLU reported as likely benign for mucopolysaccharidosis type 3B

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_000263.4(NAGLU):c.199C>T (p.Leu67=) rs920631661 0.00004
NM_000263.4(NAGLU):c.255C>T (p.Ala85=) rs1229160465 0.00003
NM_000263.4(NAGLU):c.47C>T (p.Ala16Val) rs575956298 0.00003
NM_000263.4(NAGLU):c.198C>T (p.Ser66=) rs1208771812 0.00002
NM_000263.4(NAGLU):c.105C>T (p.Leu35=) rs954871115 0.00001
NM_000263.4(NAGLU):c.114G>C (p.Arg38=) rs2092906079 0.00001
NM_000263.4(NAGLU):c.135G>C (p.Ala45=) rs2092906139 0.00001
NM_000263.4(NAGLU):c.144C>T (p.Phe48=) rs104894599 0.00001
NM_000263.4(NAGLU):c.147C>T (p.Ser49=) rs1312501106 0.00001
NM_000263.4(NAGLU):c.159G>A (p.Glu53=) rs910639529 0.00001
NM_000263.4(NAGLU):c.180G>A (p.Pro60=) rs1449219265 0.00001
NM_000263.4(NAGLU):c.228G>A (p.Arg76=) rs1220553522 0.00001
NM_000263.4(NAGLU):c.231G>C (p.Val77=) rs949225882 0.00001
NM_000263.4(NAGLU):c.261G>C (p.Ala87=) rs1452325580 0.00001
NM_000263.4(NAGLU):c.270C>T (p.His90=) rs1360267129 0.00001
NM_000263.4(NAGLU):c.276C>T (p.Tyr92=) rs753801626 0.00001
NM_000263.4(NAGLU):c.48C>T (p.Ala16=) rs1312488945 0.00001
NM_000263.4(NAGLU):c.108G>T (p.Val36=) rs2092906054
NM_000263.4(NAGLU):c.111C>G (p.Ala37=) rs2143075712
NM_000263.4(NAGLU):c.115C>T (p.Leu39=) rs2143075772
NM_000263.4(NAGLU):c.120G>A (p.Leu40=)
NM_000263.4(NAGLU):c.120G>T (p.Leu40=) rs2143075800
NM_000263.4(NAGLU):c.123G>T (p.Gly41=) rs1170826218
NM_000263.4(NAGLU):c.126A>G (p.Pro42=) rs1463936178
NM_000263.4(NAGLU):c.129C>A (p.Gly43=)
NM_000263.4(NAGLU):c.12G>A (p.Val4=)
NM_000263.4(NAGLU):c.132C>A (p.Pro44=)
NM_000263.4(NAGLU):c.132C>G (p.Pro44=) rs1489090930
NM_000263.4(NAGLU):c.138C>A (p.Ala46=) rs2143075937
NM_000263.4(NAGLU):c.141C>T (p.Asp47=) rs2143075952
NM_000263.4(NAGLU):c.147C>G (p.Ser49=) rs1312501106
NM_000263.4(NAGLU):c.153G>C (p.Ser51=) rs2143076082
NM_000263.4(NAGLU):c.153G>T (p.Ser51=) rs2143076082
NM_000263.4(NAGLU):c.15G>A (p.Ala5=)
NM_000263.4(NAGLU):c.15G>T (p.Ala5=) rs2092905675
NM_000263.4(NAGLU):c.162C>A (p.Arg54=)
NM_000263.4(NAGLU):c.165T>C (p.Ala55=)
NM_000263.4(NAGLU):c.168G>A (p.Leu56=)
NM_000263.4(NAGLU):c.168G>C (p.Leu56=) rs2092906262
NM_000263.4(NAGLU):c.177G>A (p.Lys59=) rs1288446882
NM_000263.4(NAGLU):c.180G>C (p.Pro60=) rs1449219265
NM_000263.4(NAGLU):c.183C>A (p.Gly61=)
NM_000263.4(NAGLU):c.183C>G (p.Gly61=) rs2143076268
NM_000263.4(NAGLU):c.184T>C (p.Leu62=)
NM_000263.4(NAGLU):c.18G>A (p.Val6=) rs1599253491
NM_000263.4(NAGLU):c.18G>C (p.Val6=) rs1599253491
NM_000263.4(NAGLU):c.192C>T (p.Thr64=)
NM_000263.4(NAGLU):c.201G>A (p.Leu67=) rs2143076387
NM_000263.4(NAGLU):c.207C>T (p.Gly69=)
NM_000263.4(NAGLU):c.210C>T (p.Gly70=)
NM_000263.4(NAGLU):c.213C>T (p.Gly71=)
NM_000263.4(NAGLU):c.219G>A (p.Ala73=) rs2092906518
NM_000263.4(NAGLU):c.21C>G (p.Ala7=)
NM_000263.4(NAGLU):c.21C>T (p.Ala7=)
NM_000263.4(NAGLU):c.222C>G (p.Arg74=) rs2143076606
NM_000263.4(NAGLU):c.225G>T (p.Val75=)
NM_000263.4(NAGLU):c.234C>T (p.Arg78=)
NM_000263.4(NAGLU):c.243G>T (p.Thr81=)
NM_000263.4(NAGLU):c.249G>A (p.Val83=)
NM_000263.4(NAGLU):c.24G>A (p.Ala8=)
NM_000263.4(NAGLU):c.24G>T (p.Ala8=)
NM_000263.4(NAGLU):c.252G>A (p.Ala84=)
NM_000263.4(NAGLU):c.258C>G (p.Ala86=) rs1381587394
NM_000263.4(NAGLU):c.258C>T (p.Ala86=)
NM_000263.4(NAGLU):c.261G>T (p.Ala87=)
NM_000263.4(NAGLU):c.265C>T (p.Leu89=) rs2143076945
NM_000263.4(NAGLU):c.267G>A (p.Leu89=) rs2143076955
NM_000263.4(NAGLU):c.273C>T (p.Arg91=) rs2143076997
NM_000263.4(NAGLU):c.27G>A (p.Ala9=)
NM_000263.4(NAGLU):c.27G>T (p.Ala9=) rs1002286212
NM_000263.4(NAGLU):c.30G>T (p.Val10=) rs1244442641
NM_000263.4(NAGLU):c.32G>C (p.Gly11Ala)
NM_000263.4(NAGLU):c.36C>T (p.Val12=)
NM_000263.4(NAGLU):c.39T>G (p.Leu13=)
NM_000263.4(NAGLU):c.44T>C (p.Leu15Pro)
NM_000263.4(NAGLU):c.51G>A (p.Gly17=) rs2143075377
NM_000263.4(NAGLU):c.54C>A (p.Ala18=)
NM_000263.4(NAGLU):c.54C>G (p.Ala18=) rs1276497226
NM_000263.4(NAGLU):c.54C>T (p.Ala18=)
NM_000263.4(NAGLU):c.57G>A (p.Gly19=) rs2143075427
NM_000263.4(NAGLU):c.60C>G (p.Gly20=)
NM_000263.4(NAGLU):c.60C>T (p.Gly20=) rs1421818277
NM_000263.4(NAGLU):c.63G>A (p.Ala21=)
NM_000263.4(NAGLU):c.69C>G (p.Gly23=) rs2092905938
NM_000263.4(NAGLU):c.78C>G (p.Ala26=) rs2092905964
NM_000263.4(NAGLU):c.81G>C (p.Arg27=) rs1021204618
NM_000263.4(NAGLU):c.81G>T (p.Arg27=)
NM_000263.4(NAGLU):c.87G>A (p.Ala29=) rs2092905997
NM_000263.4(NAGLU):c.90G>A (p.Ala30=) rs2143075591
NM_000263.4(NAGLU):c.93C>T (p.Ala31=)
NM_000263.4(NAGLU):c.99G>A (p.Arg33=) rs2143075635
NM_000263.4(NAGLU):c.9G>A (p.Ala3=) rs1366797084
NM_000263.4(NAGLU):c.9GGTGGC[3] (p.4VA[3]) rs1024697806

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