List of variants reported as uncertain significance for Lafora disease by Illumina Laboratory Services, Illumina

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Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_198586.3(NHLRC1):c.*332G>T	rs140122442	0.00201
NM_198586.3(NHLRC1):c.*326C>T	rs369668171	0.00144
NM_198586.3(NHLRC1):c.*442G>C	rs555214908	0.00069
NM_198586.3(NHLRC1):c.969C>T (p.Ser323=)	rs142941035	0.00022
NM_198586.3(NHLRC1):c.990G>A (p.Gln330=)	rs148553723	0.00021
NM_198586.3(NHLRC1):c.*38G>T	rs377500729	0.00020
NM_198586.3(NHLRC1):c.*837G>A	rs536257194	0.00014
NM_198586.3(NHLRC1):c.513C>T (p.Ala171=)	rs148907696	0.00013
NM_198586.3(NHLRC1):c.478T>C (p.Cys160Arg)	rs200595273	0.00011
NM_198586.3(NHLRC1):c.1091C>T (p.Ser364Leu)	rs78324544	0.00009
NM_198586.3(NHLRC1):c.*797A>G	rs886061250	0.00007
NM_198586.3(NHLRC1):c.*210T>C	rs1370146880	0.00002
NM_198586.3(NHLRC1):c.*537T>C	rs935643502	0.00001
NM_198586.3(NHLRC1):c.*61C>A	rs886061252	0.00001
NM_198586.3(NHLRC1):c.1076T>A (p.Val359Asp)	rs372993582	0.00001
NM_198586.3(NHLRC1):c.*153A>T	rs895212001
NM_198586.3(NHLRC1):c.*175T>C	rs1783727115
NM_198586.3(NHLRC1):c.*248C>A	rs182779486
NM_198586.3(NHLRC1):c.*248C>G	rs182779486
NM_198586.3(NHLRC1):c.*327G>C	rs375143655
NM_198586.3(NHLRC1):c.358_361del	rs550375620
NM_198586.3(NHLRC1):c.*406A>G	rs886061251
NM_198586.3(NHLRC1):c.*662C>G	rs150615281
NM_198586.3(NHLRC1):c.*875T>A	rs72839174
NM_198586.3(NHLRC1):c.107G>A (p.Arg36Gln)	rs764691077
NM_198586.3(NHLRC1):c.195C>A (p.Ala65=)	rs370573413
NM_198586.3(NHLRC1):c.397G>A (p.Ala133Thr)	rs886061254
NM_198586.3(NHLRC1):c.515A>G (p.Gln172Arg)	rs1783745635
NM_198586.3(NHLRC1):c.541A>G (p.Thr181Ala)	rs886061253

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