List of variants studied for congenital myopathy by Institute of Human Genetics, University of Goettingen

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001848.3(COL6A1):c.1694G>A (p.Arg565Gln)	rs886057155	0.00005
NM_000540.3(RYR1):c.2653C>T (p.Arg885Cys)	rs775256033	0.00004
NM_001101362.3(KBTBD13):c.862G>C (p.Val288Leu)	rs762309788	0.00001
NM_017534.6(MYH2):c.5149G>A (p.Glu1717Lys)	rs1479754797	0.00001
NM_000116.5(TAFAZZIN):c.215G>T (p.Cys72Phe)
NM_000540.3(RYR1):c.1654C>T (p.Arg552Trp)	rs193922770
NM_000540.3(RYR1):c.9345del (p.Ser3116fs)	rs2145663047
NM_001164508.2(NEB):c.22241A>G (p.His7414Arg)	rs757621514
NM_001267550.2(TTN):c.68169_68171dup (p.Tyr22724Ter)
NM_002478.5(MYOD1):c.607C>G (p.Arg203Gly)	rs2133764481
NM_004369.4(COL6A3):c.6280A>C (p.Lys2094Gln)	rs2106342223
NM_004369.4(COL6A3):c.9477A>C (p.Glu3159Asp)
NM_021830.5(TWNK):c.1566G>A (p.Met522Ile)	rs1219162535

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