ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive limb-girdle muscular dystrophy type 2M by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001079802.2(FKTN):c.1256T>A (p.Ile419Asn)
NM_001079802.2(FKTN):c.165+5G>A rs2132596368

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