ClinVar Miner

List of variants reported as uncertain significance for developmental and epileptic encephalopathy 6B

Included ClinVar conditions (4):
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.5217C>T (p.Pro1739=) rs149315236 0.00014
NM_001165963.4(SCN1A):c.1803C>T (p.Asn601=) rs139403702 0.00006
NM_001165963.4(SCN1A):c.1343T>C (p.Ile448Thr) rs755962326 0.00005
NM_001165963.4(SCN1A):c.1457C>G (p.Ala486Gly) rs777120925 0.00005
NM_001165963.4(SCN1A):c.3889G>A (p.Val1297Ile) rs1260685558 0.00002
NM_001165963.4(SCN1A):c.5851G>T (p.Ala1951Ser) rs376656165 0.00002
NM_001165963.4(SCN1A):c.886A>G (p.Ile296Val) rs373772491 0.00002
NM_001165963.4(SCN1A):c.1982C>T (p.Thr661Ile) rs780340848 0.00001
NM_001165963.4(SCN1A):c.2240T>C (p.Ile747Thr) rs980156920 0.00001
NM_001165963.4(SCN1A):c.2477A>G (p.Tyr826Cys) rs1422284356 0.00001
NM_001165963.4(SCN1A):c.3098T>C (p.Phe1033Ser) rs796052992 0.00001
NM_001165963.4(SCN1A):c.3152T>C (p.Leu1051Pro) rs776055539 0.00001
NM_001165963.4(SCN1A):c.3478G>A (p.Gly1160Ser) rs776752552 0.00001
NM_001165963.4(SCN1A):c.5092G>A (p.Glu1698Lys) rs548487014 0.00001
NM_001165963.4(SCN1A):c.82C>T (p.Arg28Cys) rs754032480 0.00001
NM_001165963.4(SCN1A):c.-142G>A rs2106003538
NM_001165963.4(SCN1A):c.1170+5G>T rs1057524737
NM_001165963.4(SCN1A):c.1436T>C (p.Leu479Pro) rs1697679015
NM_001165963.4(SCN1A):c.1468A>C (p.Ser490Arg) rs2105852041
NM_001165963.4(SCN1A):c.1700G>C (p.Arg567Thr) rs1176739172
NM_001165963.4(SCN1A):c.1843G>A (p.Gly615Arg)
NM_001165963.4(SCN1A):c.1973C>T (p.Ser658Leu)
NM_001165963.4(SCN1A):c.2590C>A (p.Leu864Met) rs140035595
NM_001165963.4(SCN1A):c.2975T>C (p.Leu992Pro) rs1696400496
NM_001165963.4(SCN1A):c.2994C>A (p.Asp998Glu) rs796052991
NM_001165963.4(SCN1A):c.3008C>G (p.Thr1003Ser) rs1343188948
NM_001165963.4(SCN1A):c.3670A>T (p.Ile1224Phe)
NM_001165963.4(SCN1A):c.3800T>C (p.Met1267Thr) rs1064795355
NM_001165963.4(SCN1A):c.4234A>G (p.Lys1412Glu) rs1553524977
NM_001165963.4(SCN1A):c.4378T>G (p.Tyr1460Asp) rs1573984593
NM_001165963.4(SCN1A):c.4712C>T (p.Thr1571Ile)
NM_001165963.4(SCN1A):c.4769T>G (p.Leu1590Arg)
NM_001165963.4(SCN1A):c.5263G>A (p.Asp1755Asn)
NM_001165963.4(SCN1A):c.542A>G (p.Glu181Gly) rs1559245947
NM_001165963.4(SCN1A):c.5455G>T (p.Ala1819Ser)
NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val) rs780809852
NM_001165963.4(SCN1A):c.557T>C (p.Leu186Pro) rs1559245847
NM_001165963.4(SCN1A):c.5851G>C (p.Ala1951Pro) rs376656165
NM_001165963.4(SCN1A):c.720_740del (p.Ile241_Leu247del)
NM_001165963.4(SCN1A):c.773T>C (p.Leu258Pro)

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