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: 29
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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) rs764691077
NM_198586.3(NHLRC1):c.1090T>A (p.Ser364Thr) rs370044232
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.307G>T (p.Ala103Ser) rs568131096
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.436G>A (p.Asp146Asn) rs769301934
NM_198586.3(NHLRC1):c.462dup (p.Asp155Ter)
NM_198586.3(NHLRC1):c.470G>A (p.Gly157Glu)
NM_198586.3(NHLRC1):c.485A>C (p.His162Pro)
NM_198586.3(NHLRC1):c.494G>A (p.Gly165Glu) rs1554136449
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) rs367649330
NM_198586.3(NHLRC1):c.642A>G (p.Gln214=) rs754756237
NM_198586.3(NHLRC1):c.691G>A (p.Val231Ile) rs1060503098
NM_198586.3(NHLRC1):c.713C>T (p.Ser238Phe) rs747276703
NM_198586.3(NHLRC1):c.755G>A (p.Arg252Gln) rs371072212
NM_198586.3(NHLRC1):c.874A>T (p.Thr292Ser) rs200214191

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