ClinVar Miner

List of variants in gene combination LOC130060903, NAGLU reported as uncertain significance for Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V

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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_000263.4(NAGLU):c.170C>G (p.Ala57Gly) rs181735466 0.00032
NM_000263.4(NAGLU):c.203G>A (p.Gly68Asp) rs929286583 0.00004
NM_000263.4(NAGLU):c.109G>T (p.Ala37Ser) rs2092906065 0.00001
NM_000263.4(NAGLU):c.176A>G (p.Lys59Arg) rs1217324478 0.00001
NM_000263.4(NAGLU):c.188A>G (p.Asp63Gly) rs1264514990 0.00001
NM_000263.4(NAGLU):c.212G>C (p.Gly71Ala) rs1329966515 0.00001
NM_000263.4(NAGLU):c.262G>C (p.Gly88Arg) rs1227387097 0.00001
NM_000263.4(NAGLU):c.277C>G (p.Leu93Val) rs1285791183 0.00001
NM_000263.4(NAGLU):c.59G>T (p.Gly20Val) rs1344891508 0.00001
NM_000263.4(NAGLU):c.119T>G (p.Leu40Arg)
NM_000263.4(NAGLU):c.145_147del (p.Ser49del) rs2092906185
NM_000263.4(NAGLU):c.146C>T (p.Ser49Phe)
NM_000263.4(NAGLU):c.148G>C (p.Val50Leu)
NM_000263.4(NAGLU):c.163G>A (p.Ala55Thr)
NM_000263.4(NAGLU):c.172G>A (p.Ala58Thr)
NM_000263.4(NAGLU):c.172G>C (p.Ala58Pro)
NM_000263.4(NAGLU):c.176A>T (p.Lys59Met) rs1217324478
NM_000263.4(NAGLU):c.190A>G (p.Thr64Ala)
NM_000263.4(NAGLU):c.193T>C (p.Tyr65His) rs2143076321
NM_000263.4(NAGLU):c.197G>A (p.Ser66Asn)
NM_000263.4(NAGLU):c.200T>G (p.Leu67Arg)
NM_000263.4(NAGLU):c.202G>A (p.Gly68Ser)
NM_000263.4(NAGLU):c.202_203insCCG (p.Leu67_Gly68insAla) rs1469781984
NM_000263.4(NAGLU):c.203GCG[5] (p.Gly71dup) rs1186888836
NM_000263.4(NAGLU):c.203GCG[6] (p.Gly70_Gly71dup) rs1186888836
NM_000263.4(NAGLU):c.20_31dup (p.Ala7_Val10dup) rs1555621404
NM_000263.4(NAGLU):c.214G>C (p.Ala72Pro) rs2143076526
NM_000263.4(NAGLU):c.217G>A (p.Ala73Thr)
NM_000263.4(NAGLU):c.222C>G (p.Arg74=) rs2143076606
NM_000263.4(NAGLU):c.223G>A (p.Val75Met)
NM_000263.4(NAGLU):c.223G>C (p.Val75Leu) rs1460838744
NM_000263.4(NAGLU):c.239C>T (p.Ser80Phe) rs2092906616
NM_000263.4(NAGLU):c.241A>G (p.Thr81Ala) rs2092906625
NM_000263.4(NAGLU):c.242C>T (p.Thr81Met)
NM_000263.4(NAGLU):c.259G>T (p.Ala87Ser)
NM_000263.4(NAGLU):c.26C>G (p.Ala9Gly) rs1176961335
NM_000263.4(NAGLU):c.26C>T (p.Ala9Val)
NM_000263.4(NAGLU):c.277C>A (p.Leu93Met) rs1285791183
NM_000263.4(NAGLU):c.278T>C (p.Leu93Pro)
NM_000263.4(NAGLU):c.28G>A (p.Val10Met) rs1248922504
NM_000263.4(NAGLU):c.28G>C (p.Val10Leu)
NM_000263.4(NAGLU):c.31G>C (p.Gly11Arg)
NM_000263.4(NAGLU):c.32G>T (p.Gly11Val) rs1217361905
NM_000263.4(NAGLU):c.37C>T (p.Leu13Phe)
NM_000263.4(NAGLU):c.40C>A (p.Leu14Ile)
NM_000263.4(NAGLU):c.56G>A (p.Gly19Glu)
NM_000263.4(NAGLU):c.5A>G (p.Glu2Gly)
NM_000263.4(NAGLU):c.73G>A (p.Glu25Lys)
NM_000263.4(NAGLU):c.74A>G (p.Glu25Gly)
NM_000263.4(NAGLU):c.77C>A (p.Ala26Asp) rs988433554
NM_000263.4(NAGLU):c.77C>T (p.Ala26Val) rs988433554
NM_000263.4(NAGLU):c.7G>T (p.Ala3Ser) rs968875282
NM_000263.4(NAGLU):c.80_82dup (p.Arg27_Glu28insGly)
NM_000263.4(NAGLU):c.82_114del (p.Glu28_Arg38del) rs2092905949
NM_000263.4(NAGLU):c.8C>T (p.Ala3Val) rs2092905628
NM_000263.4(NAGLU):c.92C>G (p.Ala31Gly)

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