ClinVar Miner

List of variants reported as pathogenic for amyotrophic lateral sclerosis type 10 by GeneReviews

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_007375.3(TARDBP):c.*83T>C rs80356744
NM_007375.3(TARDBP):c.1009A>G (p.Met337Val) rs80356730
NM_007375.3(TARDBP):c.1042G>T (p.Gly348Cys) rs80356733
NM_007375.3(TARDBP):c.1055A>G (p.Asn352Ser) rs80356734
NM_007375.3(TARDBP):c.1144G>A (p.Ala382Thr) rs367543041
NM_007375.3(TARDBP):c.1150G>C (p.Gly384Arg) rs797044594
NM_007375.3(TARDBP):c.1153T>G (p.Trp385Gly) rs797044595
NM_007375.3(TARDBP):c.800A>G (p.Asn267Ser) rs80356718
NM_007375.3(TARDBP):c.859G>A (p.Gly287Ser) rs80356719
NM_007375.3(TARDBP):c.881G>T (p.Gly294Val) rs80356721
NM_007375.3(TARDBP):c.883G>A (p.Gly295Ser) rs80356723
NM_007375.3(TARDBP):c.892G>A (p.Gly298Ser) rs4884357
NM_007375.3(TARDBP):c.943G>A (p.Ala315Thr) rs80356726

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