ClinVar Miner

List of variants in gene DNAJB2 reported as likely pathogenic for anterior horn disorder

Included ClinVar conditions (149):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_006736.6(DNAJB2):c.230-2A>G rs369661561 0.00012
NM_006736.6(DNAJB2):c.175+2T>A rs562669797 0.00007
NM_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys) rs730882140
NM_006736.6(DNAJB2):c.310del (p.Arg104fs) rs879253868
NM_006736.6(DNAJB2):c.353-1G>C
NM_006736.6(DNAJB2):c.445+1G>A
NM_006736.6(DNAJB2):c.446-1G>A rs2125082935
NM_006736.6(DNAJB2):c.446-2A>G rs758322672
NM_006736.6(DNAJB2):c.65+1G>A
NM_006736.6(DNAJB2):c.757G>A (p.Glu253Lys) rs1018405924

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