ClinVar Miner

List of variants studied for autosomal recessive limb-girdle muscular dystrophy type R18 by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_021942.6(TRAPPC11):c.2938G>A (p.Gly980Arg) rs397509417 0.00001
NM_021942.6(TRAPPC11):c.1893+3A>G rs886041053
NM_021942.6(TRAPPC11):c.661-1G>T rs886041052

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