ClinVar Miner

List of variants studied for amyotrophic lateral sclerosis type 12

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NC_000010.10:g.(?_12833157)_(13178866_?)del
NC_000010.10:g.(?_13151103)_(13178886_?)del
NC_000010.10:g.(?_13151123)_(13225100_?)del
NM_001008211.1(OPTN):c.1402-3C>G
NM_001008211.1(OPTN):c.381_382insAG (p.Asp128fs)
NM_001008211.1(OPTN):c.403G>A (p.Glu135Lys)
NM_001008212.2(OPTN):c.1192C>T (p.Gln398Ter) rs267606928
NM_001008212.2(OPTN):c.1401+21C>G rs553828705
NM_001008212.2(OPTN):c.1433A>G (p.Glu478Gly) rs267606929
NM_001008212.2(OPTN):c.14C>G (p.Pro5Arg) rs1564354765
NM_001008212.2(OPTN):c.158_161dup (p.Lys55fs) rs1564354968
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767
NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter) rs140599944
NM_001008212.2(OPTN):c.489A>G (p.Glu163=) rs113811959
NM_001008212.2(OPTN):c.626+24G>A rs11258211
NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu) rs142812715
NM_001008212.2(OPTN):c.963C>T (p.Ser321=) rs150381274
OPTN, EX5DEL

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