ClinVar Miner

List of variants in gene SCN8A reported as uncertain significance by Ambry Genetics

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln) rs369346315 0.00006
NM_001330260.2(SCN8A):c.3530A>G (p.Glu1177Gly) rs560509683 0.00004
NM_001330260.2(SCN8A):c.1475G>A (p.Arg492His) rs750170064 0.00003
NM_001330260.2(SCN8A):c.1474C>T (p.Arg492Cys) rs576362165 0.00001
NM_001330260.2(SCN8A):c.1577G>A (p.Arg526Lys) rs773875275 0.00001
NM_001330260.2(SCN8A):c.1837A>G (p.Ser613Gly) rs749121003 0.00001
NM_001330260.2(SCN8A):c.2042T>A (p.Leu681His) rs769132740 0.00001
NM_001330260.2(SCN8A):c.2545-4T>G rs1175986621 0.00001
NM_001330260.2(SCN8A):c.3136G>A (p.Ala1046Thr) rs775833241 0.00001
NM_001330260.2(SCN8A):c.363A>G (p.Ile121Met) rs752190543 0.00001
NM_001330260.2(SCN8A):c.3640G>A (p.Ala1214Thr) rs769243993 0.00001
NM_001330260.2(SCN8A):c.4634C>T (p.Thr1545Ile) rs759753811 0.00001
NM_001330260.2(SCN8A):c.5710C>T (p.Arg1904Cys) rs367984544 0.00001
NM_001330260.2(SCN8A):c.5711G>A (p.Arg1904His) rs142069713 0.00001
NM_001330260.2(SCN8A):c.1201T>C (p.Tyr401His) rs2138748186
NM_001330260.2(SCN8A):c.1250A>C (p.Gln417Pro) rs878854973
NM_001330260.2(SCN8A):c.1414G>A (p.Gly472Ser)
NM_001330260.2(SCN8A):c.1448T>C (p.Leu483Pro)
NM_001330260.2(SCN8A):c.1520A>C (p.Glu507Ala) rs371383623
NM_001330260.2(SCN8A):c.1942G>T (p.Val648Leu)
NM_001330260.2(SCN8A):c.1965del (p.Gly656fs) rs1352024223
NM_001330260.2(SCN8A):c.2000C>A (p.Ala667Asp) rs1942502992
NM_001330260.2(SCN8A):c.2078G>A (p.Arg693Gln)
NM_001330260.2(SCN8A):c.2153A>G (p.Lys718Arg) rs1355556670
NM_001330260.2(SCN8A):c.2493A>T (p.Glu831Asp) rs1565915374
NM_001330260.2(SCN8A):c.2540G>A (p.Arg847Gln)
NM_001330260.2(SCN8A):c.2627G>A (p.Gly876Asp)
NM_001330260.2(SCN8A):c.2720A>G (p.Lys907Arg)
NM_001330260.2(SCN8A):c.2806G>A (p.Glu936Lys) rs1555225833
NM_001330260.2(SCN8A):c.3007C>T (p.Arg1003Cys) rs1565917779
NM_001330260.2(SCN8A):c.3336T>A (p.Asp1112Glu) rs1942887434
NM_001330260.2(SCN8A):c.3448C>T (p.Gln1150Ter) rs1555226280
NM_001330260.2(SCN8A):c.3563G>A (p.Arg1188Gln) rs1555226375
NM_001330260.2(SCN8A):c.4090C>T (p.Arg1364Ter)
NM_001330260.2(SCN8A):c.410T>C (p.Ile137Thr) rs1941420576
NM_001330260.2(SCN8A):c.4267G>A (p.Val1423Ile)
NM_001330260.2(SCN8A):c.4304A>C (p.Glu1435Ala) rs1938177234
NM_001330260.2(SCN8A):c.4412del (p.Lys1471fs) rs1938179478
NM_001330260.2(SCN8A):c.4474A>G (p.Met1492Val) rs1938215673
NM_001330260.2(SCN8A):c.4754G>A (p.Trp1585Ter) rs1555229543
NM_001330260.2(SCN8A):c.4819G>A (p.Glu1607Lys) rs1555230905
NM_001330260.2(SCN8A):c.5075_5076delinsAA (p.Gly1692Glu)
NM_001330260.2(SCN8A):c.5389C>T (p.Pro1797Ser)
NM_001330260.2(SCN8A):c.5642T>C (p.Val1881Ala)
NM_001330260.2(SCN8A):c.5656A>G (p.Ile1886Val) rs1411587460
NM_001330260.2(SCN8A):c.5758A>C (p.Thr1920Pro) rs2138944655
NM_001330260.2(SCN8A):c.5840A>G (p.Tyr1947Cys)
NM_001330260.2(SCN8A):c.875A>G (p.Tyr292Cys)

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