ClinVar Miner

List of variants reported as uncertain significance for Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 by Fulgent Genetics,Fulgent Genetics

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Total variants: 10
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HGVS dbSNP
NM_004370.6(COL12A1):c.2714G>A (p.Arg905His) rs369193482
NM_004370.6(COL12A1):c.3967C>G (p.Leu1323Val) rs759722280
NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu) rs200520924
NM_004370.6(COL12A1):c.5393C>T (p.Thr1798Met) rs370767331
NM_004370.6(COL12A1):c.5410C>T (p.Arg1804Trp) rs201973949
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr) rs191233787
NM_004370.6(COL12A1):c.6070C>T (p.Pro2024Ser) rs771186535
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala) rs55997127
NM_004370.6(COL12A1):c.8501C>G (p.Pro2834Arg) rs199693016
NM_004370.6(COL12A1):c.8548A>G (p.Met2850Val) rs369104842

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