ClinVar Miner

List of variants studied for Lafora disease by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP
NM_198586.3(NHLRC1):c.*237T>C rs73379118
NM_198586.3(NHLRC1):c.*248C>A rs182779486
NM_198586.3(NHLRC1):c.*248C>G rs182779486
NM_198586.3(NHLRC1):c.*276G>C rs11966748
NM_198586.3(NHLRC1):c.*320G>A rs79197160
NM_198586.3(NHLRC1):c.*326C>T rs369668171
NM_198586.3(NHLRC1):c.*332G>T rs140122442
NM_198586.3(NHLRC1):c.*336G>A rs10949482
NM_198586.3(NHLRC1):c.*344A>T rs147528518
NM_198586.3(NHLRC1):c.*358_*361del rs550375620
NM_198586.3(NHLRC1):c.*406A>G rs886061251
NM_198586.3(NHLRC1):c.*442G>C rs555214908
NM_198586.3(NHLRC1):c.*482C>G rs114713758
NM_198586.3(NHLRC1):c.*55G>C rs11966789
NM_198586.3(NHLRC1):c.*61C>A rs886061252
NM_198586.3(NHLRC1):c.*621T>A rs10949481
NM_198586.3(NHLRC1):c.*626C>T rs10949480
NM_198586.3(NHLRC1):c.*662C>G rs150615281
NM_198586.3(NHLRC1):c.*720T>C rs141863990
NM_198586.3(NHLRC1):c.*797A>G rs886061250
NM_198586.3(NHLRC1):c.*837G>A rs536257194
NM_198586.3(NHLRC1):c.*85T>A rs73379121
NM_198586.3(NHLRC1):c.*875T>A rs72839174
NM_198586.3(NHLRC1):c.*875T>C rs72839174
NM_198586.3(NHLRC1):c.1076T>A (p.Val359Asp) rs372993582
NM_198586.3(NHLRC1):c.303G>T (p.Pro101=) rs187783545
NM_198586.3(NHLRC1):c.312T>C (p.His104=) rs115931931
NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu) rs10949483
NM_198586.3(NHLRC1):c.397G>A (p.Ala133Thr) rs886061254
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs) rs587776542
NM_198586.3(NHLRC1):c.541A>G (p.Thr181Ala) rs886061253

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