ClinVar Miner

List of variants studied for Lafora disease by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP
NM_198586.3(NHLRC1):c.1013C>T (p.Thr338Ile) rs1388505858
NM_198586.3(NHLRC1):c.103C>G (p.His35Asp) rs752045674
NM_198586.3(NHLRC1):c.1053G>C (p.Glu351Asp) rs377395116
NM_198586.3(NHLRC1):c.107G>C (p.Arg36Pro)
NM_198586.3(NHLRC1):c.1090T>A (p.Ser364Thr) rs370044232
NM_198586.3(NHLRC1):c.1091C>T (p.Ser364Leu) rs78324544
NM_198586.3(NHLRC1):c.1142A>G (p.Asp381Gly) rs200201752
NM_198586.3(NHLRC1):c.1165G>T (p.Val389Phe)
NM_198586.3(NHLRC1):c.184C>T (p.Arg62Cys) rs761458140
NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala) rs28940576
NM_198586.3(NHLRC1):c.215G>A (p.Arg72Lys)
NM_198586.3(NHLRC1):c.228G>T (p.Arg76=) rs1409114977
NM_198586.3(NHLRC1):c.269T>C (p.Ile90Thr)
NM_198586.3(NHLRC1):c.27G>A (p.Gly9=) rs765575310
NM_198586.3(NHLRC1):c.303G>T (p.Pro101=) rs187783545
NM_198586.3(NHLRC1):c.307G>T (p.Ala103Ser) rs568131096
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu) rs139029314
NM_198586.3(NHLRC1):c.386C>A (p.Pro129His) rs750465793
NM_198586.3(NHLRC1):c.406C>T (p.Pro136Ser) rs1561882043
NM_198586.3(NHLRC1):c.418C>T (p.Arg140Cys) rs148035405
NM_198586.3(NHLRC1):c.422T>C (p.Val141Ala) rs143537405
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn) rs769301934
NM_198586.3(NHLRC1):c.462dup (p.Asp155Ter)
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val) rs146636139
NM_198586.3(NHLRC1):c.470G>A (p.Gly157Glu)
NM_198586.3(NHLRC1):c.478T>C (p.Cys160Arg) rs200595273
NM_198586.3(NHLRC1):c.485A>C (p.His162Pro)
NM_198586.3(NHLRC1):c.494G>A (p.Gly165Glu) rs1554136449
NM_198586.3(NHLRC1):c.513C>T (p.Ala171=) rs148907696
NM_198586.3(NHLRC1):c.551A>G (p.Asn184Ser) rs138667242
NM_198586.3(NHLRC1):c.575A>T (p.Asp192Val)
NM_198586.3(NHLRC1):c.584A>G (p.Asp195Gly)
NM_198586.3(NHLRC1):c.642A>G (p.Gln214=) rs754756237
NM_198586.3(NHLRC1):c.681T>A (p.Asn227Lys) rs140850172
NM_198586.3(NHLRC1):c.691G>A (p.Val231Ile) rs1060503098
NM_198586.3(NHLRC1):c.713C>T (p.Ser238Phe)
NM_198586.3(NHLRC1):c.755G>A (p.Arg252Gln)
NM_198586.3(NHLRC1):c.874A>T (p.Thr292Ser)
NM_198586.3(NHLRC1):c.882G>T (p.Val294=) rs1314207581
NM_198586.3(NHLRC1):c.969C>T (p.Ser323=) rs142941035
NM_198586.3(NHLRC1):c.990G>A (p.Gln330=) rs148553723

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