ClinVar Miner

List of variants in gene AR reported as pathogenic for Werdnig-Hoffmann disease

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NC_000023.11:g.(?_67686010)_(67686126_?)del
NM_000044.4(AR):c.1440dup (p.Tyr481Leufs) rs1555970004
NM_000044.4(AR):c.1451_1454del (p.Thr484Serfs)
NM_000044.4(AR):c.1614dup (p.Arg539Alafs)
NM_000044.4(AR):c.1789G>A (p.Ala597Thr) rs137852569
NM_000044.4(AR):c.2176T>C (p.Phe726Leu) rs1555996810
NM_000044.4(AR):c.2257C>T (p.Arg753Ter) rs886039558
NM_000044.4(AR):c.2318+1G>C
NM_000044.4(AR):c.2359C>T (p.Arg787Ter) rs1555997580
NM_000044.4(AR):c.2391G>A (p.Trp797Ter) rs137852565
NM_000044.4(AR):c.2495G>A (p.Arg832Gln) rs1386577803
NM_000044.4(AR):c.2521C>T (p.Arg841Cys) rs137852577
NM_000044.4(AR):c.2567G>A (p.Arg856His) rs9332971
NM_000044.4(AR):c.2599G>A (p.Val867Met) rs137852564
NM_000044.4(AR):c.2612C>T (p.Ala871Val) rs143040492
NM_000044.4(AR):c.2668G>A (p.Val890Met) rs886041133
NM_000044.4(AR):c.292C>T (p.Gln98Ter) rs1555969553
NM_000044.4(AR):c.749dup (p.Val251Cysfs) rs1555969684
NM_000044.4(AR):c.830_845dup (p.Pro283Argfs)

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