List of variants studied for hereditary skeletal muscle disorder by Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_182961.4(SYNE1):c.4499T>A (p.Ile1500Asn)	rs746438011	0.00001
NM_000426.3(LAMA2):c.6993_7155del163 (p.Ser2331Argfs)	rs1554301637
NM_000540.3(RYR1):c.4481T>C (p.Val1494Ala)	rs767928113
NM_000540.3(RYR1):c.5628GGA[2] (p.Glu1878del)	rs371047178
NM_001077365.2(POMT1):c.1093_1094insGGAGCACGGTGTGGAACGTGGG (p.Val365fs)	rs2131707009
NM_001077365.2(POMT1):c.1417G>C (p.Gly473Arg)	rs376882399
NM_001079802.2(FKTN):c.1106del (p.Phe369fs)	rs750176716
NM_001260.3(CDK8):c.185C>A (p.Ser62Ter)	rs1565977796
NM_001267550.2(TTN):c.62129dup (p.Ser20712fs)	rs886039913
NM_001849.4(COL6A2):c.2040dup (p.Ile681fs)	rs886039905
NM_004369.4(COL6A3):c.6283-2A>C	rs797044988
NM_012082.4(ZFPM2):c.1168A>C (p.Lys390Gln)	rs536096943
NM_012082.4(ZFPM2):c.130G>A (p.Glu44Lys)	rs569356297
NM_014254.3(RXYLT1):c.390G>A (p.Trp130Ter)	rs1565899712
NM_021971.2(GMPPB):c.[1000G>A];[951+1G>A]
NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser)	rs763283033

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