ClinVar Miner

List of variants studied for Bethlem myopathy 2 by Baylor Genetics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004370.6(COL12A1):c.5116G>A (p.Glu1706Lys) rs767343975 0.00002
NM_004370.6(COL12A1):c.6295T>G (p.Tyr2099Asp) rs1366474005 0.00001
NM_004370.6(COL12A1):c.7A>T (p.Ser3Cys) rs1770598850 0.00001
NM_004370.6(COL12A1):c.1952_1966delinsTAA (p.Asn651_Gly656delinsIleArg) rs2533552820
NM_004370.6(COL12A1):c.2012G>C (p.Gly671Ala) rs1057519171
NM_004370.6(COL12A1):c.8132G>A (p.Ser2711Asn) rs1768550579
NM_004370.6(COL12A1):c.8251C>A (p.Pro2751Thr) rs1292560967

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