ClinVar Miner

List of variants reported as uncertain significance for Lafora disease by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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HGVS dbSNP
NM_198586.3(NHLRC1):c.1013C>T (p.Thr338Ile) rs1388505858
NM_198586.3(NHLRC1):c.1039G>A (p.Gly347Arg)
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.1072A>G (p.Met358Val)
NM_198586.3(NHLRC1):c.107G>C (p.Arg36Pro) rs764691077
NM_198586.3(NHLRC1):c.1090T>A (p.Ser364Thr) rs370044232
NM_198586.3(NHLRC1):c.1109C>A (p.Thr370Asn)
NM_198586.3(NHLRC1):c.1132C>G (p.Leu378Val)
NM_198586.3(NHLRC1):c.1142A>G (p.Asp381Gly) rs200201752
NM_198586.3(NHLRC1):c.1165G>T (p.Val389Phe) rs541460675
NM_198586.3(NHLRC1):c.178C>T (p.His60Tyr) rs539307365
NM_198586.3(NHLRC1):c.182C>T (p.Pro61Leu)
NM_198586.3(NHLRC1):c.184C>T (p.Arg62Cys) rs761458140
NM_198586.3(NHLRC1):c.203G>C (p.Cys68Ser)
NM_198586.3(NHLRC1):c.215G>A (p.Arg72Lys) rs1582030466
NM_198586.3(NHLRC1):c.269T>C (p.Ile90Thr) rs1582030401
NM_198586.3(NHLRC1):c.307G>A (p.Ala103Thr)
NM_198586.3(NHLRC1):c.307G>T (p.Ala103Ser) rs568131096
NM_198586.3(NHLRC1):c.323C>G (p.Pro108Arg)
NM_198586.3(NHLRC1):c.361G>A (p.Gly121Ser)
NM_198586.3(NHLRC1):c.374C>A (p.Thr125Asn) rs1085307861
NM_198586.3(NHLRC1):c.392G>T (p.Gly131Val)
NM_198586.3(NHLRC1):c.406C>T (p.Pro136Ser) rs1561882043
NM_198586.3(NHLRC1):c.407C>T (p.Pro136Leu)
NM_198586.3(NHLRC1):c.415G>A (p.Gly139Arg)
NM_198586.3(NHLRC1):c.418C>T (p.Arg140Cys) rs148035405
NM_198586.3(NHLRC1):c.424G>C (p.Val142Leu)
NM_198586.3(NHLRC1):c.470G>A (p.Gly157Glu) rs781300542
NM_198586.3(NHLRC1):c.481G>A (p.Ala161Thr)
NM_198586.3(NHLRC1):c.485A>C (p.His162Pro) rs1217974765
NM_198586.3(NHLRC1):c.494G>A (p.Gly165Glu) rs1554136449
NM_198586.3(NHLRC1):c.49C>A (p.Arg17Ser)
NM_198586.3(NHLRC1):c.4_5delinsAA (p.Ala2Lys) rs796052757
NM_198586.3(NHLRC1):c.551A>G (p.Asn184Ser) rs138667242
NM_198586.3(NHLRC1):c.575A>T (p.Asp192Val) rs1194084403
NM_198586.3(NHLRC1):c.584A>G (p.Asp195Gly) rs367649330
NM_198586.3(NHLRC1):c.612T>G (p.Phe204Leu) rs201058506
NM_198586.3(NHLRC1):c.691G>A (p.Val231Ile) rs1060503098
NM_198586.3(NHLRC1):c.704A>G (p.Glu235Gly)
NM_198586.3(NHLRC1):c.713C>A (p.Ser238Tyr)
NM_198586.3(NHLRC1):c.713C>T (p.Ser238Phe) rs747276703
NM_198586.3(NHLRC1):c.740C>T (p.Ala247Val) rs367906378
NM_198586.3(NHLRC1):c.754C>T (p.Arg252Trp)
NM_198586.3(NHLRC1):c.755G>A (p.Arg252Gln) rs371072212
NM_198586.3(NHLRC1):c.775G>T (p.Ala259Ser)
NM_198586.3(NHLRC1):c.787A>C (p.Asn263His)
NM_198586.3(NHLRC1):c.805G>A (p.Val269Met) rs140164729
NM_198586.3(NHLRC1):c.808T>G (p.Ser270Ala)
NM_198586.3(NHLRC1):c.874A>T (p.Thr292Ser) rs200214191
NM_198586.3(NHLRC1):c.893G>T (p.Ser298Ile)
NM_198586.3(NHLRC1):c.913G>A (p.Gly305Ser)
NM_198586.3(NHLRC1):c.977C>A (p.Thr326Asn) rs770587249

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