ClinVar Miner

List of variants reported as uncertain significance for Severe myoclonic epilepsy in infancy by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 69
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HGVS dbSNP
NM_002977.3(SCN9A):c.*1357C>T rs200338267
NM_002977.3(SCN9A):c.*1605T>C rs199848927
NM_002977.3(SCN9A):c.*165_*167dup 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.*2744del 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.*491del 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.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_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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