ClinVar Miner

List of variants in gene combination LOC114803470, SCN8A reported as likely benign by Invitae

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Total variants: 28
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HGVS dbSNP gnomAD frequency
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.120C>T (p.Ala40=) rs145881860 0.00001
NM_001330260.2(SCN8A):c.261C>T (p.Tyr87=) rs1484586967 0.00001
NM_001330260.2(SCN8A):c.276+12G>A rs756447486 0.00001
NM_001330260.2(SCN8A):c.81G>A (p.Arg27=) rs748777974 0.00001
NM_001330260.2(SCN8A):c.156G>A (p.Lys52=)
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.216C>T (p.Ile72=)
NM_001330260.2(SCN8A):c.234A>G (p.Ala78=)
NM_001330260.2(SCN8A):c.240C>G (p.Pro80=) rs1266385723
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.270G>A (p.Thr90=) rs371712630
NM_001330260.2(SCN8A):c.276+15G>A
NM_001330260.2(SCN8A):c.276+4A>T rs1940958406
NM_001330260.2(SCN8A):c.276+9G>T
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.48T>C (p.Pro16=)
NM_001330260.2(SCN8A):c.9G>A (p.Ala3=) rs778177119

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