ClinVar Miner

List of variants in gene LOC114803470, SCN8A studied for complex neurodevelopmental disorder

Included ClinVar conditions (297):
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Gene type:
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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.141C>T (p.Asp47=) rs149013279 0.00196
NM_001330260.2(SCN8A):c.177G>A (p.Leu59=) rs147027699 0.00014
NM_001330260.2(SCN8A):c.207C>T (p.Tyr69=) rs532501146 0.00008
NM_001330260.2(SCN8A):c.171C>T (p.Ser57=) rs748773097 0.00004
NM_001330260.2(SCN8A):c.95G>A (p.Ser32Asn) rs375419028 0.00004
NM_001330260.2(SCN8A):c.195G>A (p.Leu65=) rs748136961 0.00003
NM_001330260.2(SCN8A):c.82C>T (p.Arg28Cys) rs768570935 0.00002
NM_001330260.2(SCN8A):c.8C>T (p.Ala3Val) rs758891499 0.00002
NM_001330260.2(SCN8A):c.11G>A (p.Arg4Gln) rs751889285 0.00001
NM_001330260.2(SCN8A):c.120C>T (p.Ala40=) rs145881860 0.00001
NM_001330260.2(SCN8A):c.160A>C (p.Lys54Gln) rs755721954 0.00001
NM_001330260.2(SCN8A):c.235G>A (p.Val79Ile) rs775593096 0.00001
NM_001330260.2(SCN8A):c.261C>T (p.Tyr87=) rs1484586967 0.00001
NM_001330260.2(SCN8A):c.269C>T (p.Thr90Met) rs763078635 0.00001
NM_001330260.2(SCN8A):c.270G>T (p.Thr90=) rs371712630 0.00001
NM_001330260.2(SCN8A):c.276+12G>A rs756447486 0.00001
NM_001330260.2(SCN8A):c.70A>G (p.Asn24Asp) rs1170755479 0.00001
NM_001330260.2(SCN8A):c.71A>G (p.Asn24Ser) rs769269501 0.00001
NM_001330260.2(SCN8A):c.80G>A (p.Arg27Lys) rs1303731165 0.00001
NM_001330260.2(SCN8A):c.81G>A (p.Arg27=) rs748777974 0.00001
NM_001330260.2(SCN8A):c.83G>A (p.Arg28His) rs531796685 0.00001
NC_000012.12:g.(?_51662798)_(51688869_?)del
NM_001330260.2(SCN8A):c.100C>T (p.Leu34Phe) rs1940952445
NM_001330260.2(SCN8A):c.10C>T (p.Arg4Trp) rs1940949996
NM_001330260.2(SCN8A):c.117G>C (p.Lys39Asn) rs1940953152
NM_001330260.2(SCN8A):c.119C>T (p.Ala40Val) rs2138671122
NM_001330260.2(SCN8A):c.142G>A (p.Asp48Asn) rs757582223
NM_001330260.2(SCN8A):c.156G>A (p.Lys52=)
NM_001330260.2(SCN8A):c.157C>T (p.Pro53Ser) rs1940954610
NM_001330260.2(SCN8A):c.158C>G (p.Pro53Arg) rs1057524711
NM_001330260.2(SCN8A):c.159C>T (p.Pro53=)
NM_001330260.2(SCN8A):c.15G>C (p.Leu5=) rs757637034
NM_001330260.2(SCN8A):c.162G>A (p.Lys54=) rs779576167
NM_001330260.2(SCN8A):c.168C>T (p.Asn56=) rs1940955072
NM_001330260.2(SCN8A):c.191G>A (p.Ser64Asn)
NM_001330260.2(SCN8A):c.197C>A (p.Pro66His) rs1940955829
NM_001330260.2(SCN8A):c.202A>G (p.Ile68Val) rs797045945
NM_001330260.2(SCN8A):c.213C>A (p.Asp71Glu) rs888638528
NM_001330260.2(SCN8A):c.216C>T (p.Ile72=)
NM_001330260.2(SCN8A):c.217C>T (p.Pro73Ser)
NM_001330260.2(SCN8A):c.218C>T (p.Pro73Leu) rs1592363476
NM_001330260.2(SCN8A):c.222A>G (p.Gln74=) rs2138671415
NM_001330260.2(SCN8A):c.234A>G (p.Ala78=)
NM_001330260.2(SCN8A):c.241C>T (p.Leu81=) rs1940957150
NM_001330260.2(SCN8A):c.249C>T (p.Asp83=) rs2138671497
NM_001330260.2(SCN8A):c.258A>G (p.Pro86=)
NM_001330260.2(SCN8A):c.269C>G (p.Thr90Arg)
NM_001330260.2(SCN8A):c.270G>A (p.Thr90=) rs371712630
NM_001330260.2(SCN8A):c.272A>T (p.Gln91Leu)
NM_001330260.2(SCN8A):c.274A>C (p.Lys92Gln)
NM_001330260.2(SCN8A):c.276+15G>A
NM_001330260.2(SCN8A):c.276+1G>A
NM_001330260.2(SCN8A):c.276+4A>T rs1940958406
NM_001330260.2(SCN8A):c.276+9G>T
NM_001330260.2(SCN8A):c.276A>G (p.Lys92=) rs940189587
NM_001330260.2(SCN8A):c.31C>A (p.Pro11Thr) rs1940950511
NM_001330260.2(SCN8A):c.36T>C (p.Asp12=) rs1185519570
NM_001330260.2(SCN8A):c.36T>G (p.Asp12Glu) rs1185519570
NM_001330260.2(SCN8A):c.47C>T (p.Pro16Leu) rs1940950901
NM_001330260.2(SCN8A):c.48T>C (p.Pro16=)
NM_001330260.2(SCN8A):c.4G>A (p.Ala2Thr) rs2138670848
NM_001330260.2(SCN8A):c.50_55del (p.Phe17_Pro19delinsSer) rs2138670960
NM_001330260.2(SCN8A):c.51C>G (p.Phe17Leu) rs1592363287
NM_001330260.2(SCN8A):c.56C>G (p.Pro19Arg) rs1940951099
NM_001330260.2(SCN8A):c.60G>C (p.Glu20Asp) rs1940951373
NM_001330260.2(SCN8A):c.85A>C (p.Ile29Leu)
NM_001330260.2(SCN8A):c.88G>A (p.Ala30Thr) rs2138671059
NM_001330260.2(SCN8A):c.9G>A (p.Ala3=) rs778177119

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