ClinVar Miner

List of variants in gene combination COL12A1, LOC129996730 reported as uncertain significance for Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004370.6(COL12A1):c.4417+4A>G	rs2149409130
NM_004370.6(COL12A1):c.4417+4_4417+5del
NM_004370.6(COL12A1):c.4417+5G>A	rs2533371745

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