ClinVar Miner

List of variants studied for nemaline myopathy by Pars Genome Lab

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.5905T>C (p.Tyr1969His) rs34532796 0.00550
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=) rs34718443 0.00171
NM_001164508.2(NEB):c.3211A>C (p.Ile1071Leu) rs35194393 0.00014
NM_001164508.2(NEB):c.23840T>G (p.Leu7947Trp) rs200559481 0.00008

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