ClinVar Miner

List of variants studied for Bethlem myopathy 2 by MGZ Medical Genetics Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004370.6(COL12A1):c.7697+1G>C rs1178118885
NM_004370.6(COL12A1):c.8365G>C (p.Gly2789Arg) rs1768359621
NM_004370.6(COL12A1):c.9010+2T>C rs2533023759

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