ClinVar Miner

List of variants in gene NPRL3 reported as uncertain significance for adolescent-onset epilepsy syndrome

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_001077350.3(NPRL3):c.1567C>T (p.Arg523Cys) rs189283988 0.00006
NM_001077350.3(NPRL3):c.1678G>T (p.Val560Phe) rs752181668 0.00005
NM_001077350.3(NPRL3):c.1562G>A (p.Arg521His) rs758488510 0.00003
NM_001077350.3(NPRL3):c.1643G>A (p.Arg548His) rs367598130 0.00003
NM_001077350.3(NPRL3):c.1707_1708del (p.Ter570SerextTer?) rs756232589 0.00003
NM_001077350.3(NPRL3):c.1561C>T (p.Arg521Cys) rs1305476231 0.00001
NM_001077350.3(NPRL3):c.1564G>A (p.Gly522Ser) rs752985390 0.00001
NM_001077350.3(NPRL3):c.1595A>G (p.Asn532Ser) rs371517875 0.00001
NM_001077350.3(NPRL3):c.1669G>A (p.Glu557Lys) rs764005661 0.00001
NM_001077350.3(NPRL3):c.1687G>A (p.Val563Ile) rs764756422 0.00001
NC_000016.10:g.(?_86685)_(86890_?)del
NC_000016.10:g.(?_86685)_(86890_?)dup
NC_000016.9:g.(?_136684)_(139920_?)dup
NC_000016.9:g.(?_136684)_(143343_?)del
NC_000016.9:g.(?_136684)_(160624_?)dup
NC_000016.9:g.(?_136684)_(188286_?)dup
NC_000016.9:g.(?_136704)_(136889_?)del
NC_000016.9:g.(?_136704)_(139920_?)dup
NC_000016.9:g.(?_148123)_(167394_?)dup
NC_000016.9:g.(?_148123)_(188266_?)dup
NC_000016.9:g.(?_148123)_(193701_?)dup
NC_000016.9:g.(?_148291)_(178264_?)dup
NC_000016.9:g.(?_150350)_(150527_?)dup
NC_000016.9:g.(?_150350)_(169274_?)dup
NC_000016.9:g.(?_150360)_(150517_?)dup
NC_000016.9:g.(?_150360)_(169264_?)dup
NC_000016.9:g.(?_160503)_(169274_?)del
NC_000016.9:g.(?_160503)_(169274_?)dup
NC_000016.9:g.(?_160503)_(188266_?)dup
NC_000016.9:g.(?_160503)_(188286_?)dup
NC_000016.9:g.(?_160503)_(193701_?)dup
NC_000016.9:g.(?_160513)_(188266_?)dup
NC_000016.9:g.(?_162601)_(188266_?)dup
NC_000016.9:g.(?_167280)_(193701_?)dup
NC_000016.9:g.(?_180501)_(188266_?)dup
NC_000016.9:g.(?_180501)_(193701_?)dup
NM_001077350.3(NPRL3):c.1545G>A (p.Arg515=) rs2141895127
NM_001077350.3(NPRL3):c.1557C>G (p.Tyr519Ter) rs2141895094
NM_001077350.3(NPRL3):c.1558T>C (p.Phe520Leu)
NM_001077350.3(NPRL3):c.1561del (p.Arg521fs) rs1596492194
NM_001077350.3(NPRL3):c.1565del (p.Gly522fs)
NM_001077350.3(NPRL3):c.1567C>A (p.Arg523Ser) rs189283988
NM_001077350.3(NPRL3):c.1567del (p.Arg523fs)
NM_001077350.3(NPRL3):c.1574A>T (p.His525Leu) rs1898496064
NM_001077350.3(NPRL3):c.1576C>T (p.Leu526=)
NM_001077350.3(NPRL3):c.1579GAG[1] (p.Glu528del) rs2141894975
NM_001077350.3(NPRL3):c.1583A>G (p.Glu528Gly)
NM_001077350.3(NPRL3):c.1586T>G (p.Ile529Ser)
NM_001077350.3(NPRL3):c.1589T>C (p.Met530Thr) rs1453118437
NM_001077350.3(NPRL3):c.1590G>C (p.Met530Ile) rs2141894953
NM_001077350.3(NPRL3):c.1597G>A (p.Glu533Lys)
NM_001077350.3(NPRL3):c.1597G>C (p.Glu533Gln)
NM_001077350.3(NPRL3):c.1604C>T (p.Thr535Met)
NM_001077350.3(NPRL3):c.1609C>T (p.Arg537Cys)
NM_001077350.3(NPRL3):c.1609_1610delinsTC (p.Arg537Ser)
NM_001077350.3(NPRL3):c.1610G>A (p.Arg537His) rs771288626
NM_001077350.3(NPRL3):c.1618_1629del (p.Leu540_Leu543del) rs2141894817
NM_001077350.3(NPRL3):c.1628T>C (p.Leu543Pro) rs2141894824
NM_001077350.3(NPRL3):c.1642C>T (p.Arg548Cys)
NM_001077350.3(NPRL3):c.1643G>T (p.Arg548Leu)
NM_001077350.3(NPRL3):c.1645A>G (p.Ser549Gly) rs537555038
NM_001077350.3(NPRL3):c.1647C>A (p.Ser549Arg) rs1191944943
NM_001077350.3(NPRL3):c.1647C>G (p.Ser549Arg)
NM_001077350.3(NPRL3):c.1648G>A (p.Val550Met) rs188724206
NM_001077350.3(NPRL3):c.1648G>C (p.Val550Leu) rs188724206
NM_001077350.3(NPRL3):c.1648G>T (p.Val550Leu) rs188724206
NM_001077350.3(NPRL3):c.1654del (p.Val552fs)
NM_001077350.3(NPRL3):c.1666del (p.His556fs) rs2141894715
NM_001077350.3(NPRL3):c.1667A>C (p.His556Pro) rs1898489910
NM_001077350.3(NPRL3):c.1673A>G (p.Asp558Gly)
NM_001077350.3(NPRL3):c.1682T>C (p.Ile561Thr) rs1898488842
NM_001077350.3(NPRL3):c.1699C>G (p.Leu567Val)
NM_001077350.3(NPRL3):c.1708T>C (p.Ter570Arg)

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