ClinVar Miner

List of variants reported as uncertain significance for Severe myoclonic epilepsy in infancy

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Total variants: 114
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HGVS dbSNP
NM_001330723.2(SNX27):c.1046C>A (p.Ala349Asp)
NM_001330723.2(SNX27):c.1118A>G (p.Asn373Ser)
NM_001330723.2(SNX27):c.1147C>G (p.Gln383Glu)
NM_001330723.2(SNX27):c.1181A>C (p.Lys394Thr) rs1558073082
NM_001330723.2(SNX27):c.118G>A (p.Gly40Ser) rs1354158738
NM_001330723.2(SNX27):c.1237A>G (p.Met413Val) rs144336311
NM_001330723.2(SNX27):c.1246A>G (p.Asn416Asp) rs1388451146
NM_001330723.2(SNX27):c.1258A>T (p.Thr420Ser) rs1399483139
NM_001330723.2(SNX27):c.1274A>G (p.Asn425Ser)
NM_001330723.2(SNX27):c.1310G>C (p.Arg437Thr) rs1558078260
NM_001330723.2(SNX27):c.1324G>A (p.Val442Ile) rs149937418
NM_001330723.2(SNX27):c.1346C>T (p.Thr449Met)
NM_001330723.2(SNX27):c.1427G>T (p.Arg476Leu) rs200106732
NM_001330723.2(SNX27):c.1465G>A (p.Glu489Lys) rs1400115897
NM_001330723.2(SNX27):c.1493G>A (p.Arg498Gln) rs1558078709
NM_001330723.2(SNX27):c.1517A>G (p.Tyr506Cys) rs1553266278
NM_001330723.2(SNX27):c.238C>G (p.His80Asp)
NM_001330723.2(SNX27):c.259G>T (p.Gly87Trp)
NM_001330723.2(SNX27):c.388T>A (p.Leu130Met)
NM_001330723.2(SNX27):c.41C>T (p.Pro14Leu) rs965328686
NM_001330723.2(SNX27):c.422A>T (p.Asp141Val)
NM_001330723.2(SNX27):c.456A>G (p.Gln152=) rs774725804
NM_001330723.2(SNX27):c.543+6T>C
NM_001330723.2(SNX27):c.575T>A (p.Leu192Gln) rs1208840156
NM_001330723.2(SNX27):c.595G>C (p.Glu199Gln)
NM_001330723.2(SNX27):c.60_62CGG[6] (p.Gly24_Gly25dup) rs567208173
NM_001330723.2(SNX27):c.676T>A (p.Ser226Thr) rs748735835
NM_001330723.2(SNX27):c.69C>T (p.Gly23=)
NM_001330723.2(SNX27):c.73G>T (p.Gly25Trp) rs1558028277
NM_001330723.2(SNX27):c.796G>A (p.Asp266Asn)
NM_001330723.2(SNX27):c.848A>G (p.Asp283Gly) rs776237861
NM_001330723.2(SNX27):c.857C>T (p.Thr286Met)
NM_001330723.2(SNX27):c.862A>G (p.Thr288Ala)
NM_001330723.2(SNX27):c.883A>G (p.Ser295Gly) rs754578785
NM_001330723.2(SNX27):c.908C>T (p.Ala303Val)
NM_001330723.2(SNX27):c.913G>A (p.Ala305Thr)
NM_001330723.2(SNX27):c.938C>T (p.Thr313Met) rs140922236
NM_002977.3(SCN9A):c.*1357C>T rs200338267
NM_002977.3(SCN9A):c.*1605T>C rs199848927
NM_002977.3(SCN9A):c.*165_*167dupATG rs886055049
NM_002977.3(SCN9A):c.*1770A>C rs200353065
NM_002977.3(SCN9A):c.*2222T>C rs199958892
NM_002977.3(SCN9A):c.*226A>C rs886055048
NM_002977.3(SCN9A):c.*2744delC rs763459885
NM_002977.3(SCN9A):c.*2860C>T rs200963393
NM_002977.3(SCN9A):c.*2928G>A rs199559478
NM_002977.3(SCN9A):c.*2986T>G rs201730339
NM_002977.3(SCN9A):c.*3282A>C rs139483482
NM_002977.3(SCN9A):c.*491delT rs886055047
NM_002977.3(SCN9A):c.*948G>A rs201415802
NM_002977.3(SCN9A):c.-126G>C rs200099565
NM_002977.3(SCN9A):c.-324C>T rs201905758
NM_002977.3(SCN9A):c.-339G>C rs886055057
NM_002977.3(SCN9A):c.1014T>G (p.Asp338Glu) rs886055056
NM_002977.3(SCN9A):c.1094A>G (p.Asn365Ser) rs886055055
NM_002977.3(SCN9A):c.1207A>C (p.Met403Leu) rs746956041
NM_002977.3(SCN9A):c.1347T>C (p.Ser449=) rs201990547
NM_002977.3(SCN9A):c.1464C>T (p.Leu488=) rs200682458
NM_002977.3(SCN9A):c.1713C>T (p.Ala571=) rs200876333
NM_002977.3(SCN9A):c.1947G>A (p.Thr649=) rs200014315
NM_002977.3(SCN9A):c.213G>A (p.Val71=) rs200240989
NM_002977.3(SCN9A):c.2463A>C (p.Ser821=) rs200185692
NM_002977.3(SCN9A):c.274A>T (p.Asn92Tyr) rs747265095
NM_002977.3(SCN9A):c.2883T>C (p.Ser961=) rs886055054
NM_002977.3(SCN9A):c.294C>A (p.Phe98Leu) rs199824489
NM_002977.3(SCN9A):c.3232G>A (p.Val1078Met) rs886055053
NM_002977.3(SCN9A):c.3431T>A (p.Phe1144Tyr) rs750839038
NM_002977.3(SCN9A):c.3464G>A (p.Cys1155Tyr) rs370455223
NM_002977.3(SCN9A):c.3721A>G (p.Thr1241Ala) rs886055052
NM_002977.3(SCN9A):c.3734A>G (p.Asn1245Ser) rs141268327
NM_002977.3(SCN9A):c.3892-13T>C rs886055051
NM_002977.3(SCN9A):c.3911T>C (p.Ile1304Thr) rs202235611
NM_002977.3(SCN9A):c.4401_4403GAA[1] (p.Lys1469del) rs886055050
NM_002977.3(SCN9A):c.4470+8_4470+9insT rs767624579
NM_002977.3(SCN9A):c.5346G>A (p.Ala1782=) rs201875421
NM_002977.3(SCN9A):c.685C>A (p.Pro229Thr) rs755653914
NM_006920.6(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_006920.6(SCN1A):c.1604G>A (p.Arg535His) rs184524479
NM_006920.6(SCN1A):c.3479C>T (p.Pro1160Leu) rs1559152754
NM_006920.6(SCN1A):c.3969+2451G>C rs869312684
NM_006920.6(SCN1A):c.5318T>A (p.Val1773Asp) rs1057518671
NM_006920.6(SCN1A):c.5468C>T (p.Ala1823Val) rs780809852
NM_006920.6(SCN1A):c.602+1G>A rs794726827
NM_198903.2(GABRG2):c.*1320G>A rs886060385
NM_198903.2(GABRG2):c.*1392A>T rs886060386
NM_198903.2(GABRG2):c.*1427C>T rs375013278
NM_198903.2(GABRG2):c.*1468A>G rs372041761
NM_198903.2(GABRG2):c.*1763A>T rs886060387
NM_198903.2(GABRG2):c.*1889C>A rs886060388
NM_198903.2(GABRG2):c.*194G>A rs758832535
NM_198903.2(GABRG2):c.*1981G>C rs886060389
NM_198903.2(GABRG2):c.*247T>C rs371389067
NM_198903.2(GABRG2):c.*250A>C rs886060384
NM_198903.2(GABRG2):c.*32T>C rs749257839
NM_198903.2(GABRG2):c.*422C>T rs752382943
NM_198903.2(GABRG2):c.-104T>G rs886060380
NM_198903.2(GABRG2):c.-114T>C rs886060379
NM_198903.2(GABRG2):c.-179T>A rs886060378
NM_198903.2(GABRG2):c.-217C>G rs748771306
NM_198903.2(GABRG2):c.-241A>C rs886060377
NM_198903.2(GABRG2):c.-250C>T rs886060376
NM_198903.2(GABRG2):c.-268C>A rs886060375
NM_198903.2(GABRG2):c.-334C>T rs886060374
NM_198903.2(GABRG2):c.-4del rs771282908
NM_198903.2(GABRG2):c.-4dup rs771282908
NM_198903.2(GABRG2):c.1042+6A>G rs375294947
NM_198903.2(GABRG2):c.107+12C>T rs369466385
NM_198903.2(GABRG2):c.135C>T (p.Asp45=) rs375308385
NM_198903.2(GABRG2):c.1454G>A (p.Arg485His) rs587780341
NM_198903.2(GABRG2):c.1509G>A (p.Leu503=) rs765904792
NM_198903.2(GABRG2):c.1545G>A (p.Leu515=) rs886060383
NM_198903.2(GABRG2):c.243T>A (p.Leu81=) rs143295869
NM_198903.2(GABRG2):c.24C>A (p.Ser8Arg) rs183259247
NM_198903.2(GABRG2):c.889+10A>G rs765703079

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