List of variants studied for hereditary skeletal muscle disorder by Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)	rs200563280	0.00013
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp)	rs375431575	0.00001
NM_000334.4(SCN4A):c.3798G>C (p.Glu1266Asp)
NM_000334.4(SCN4A):c.4340T>C (p.Phe1447Ser)
NM_000540.3(RYR1):c.8068-3C>G
NM_017739.4(POMGNT1):c.304G>T (p.Glu102Ter)	rs749603354
NM_152393.4(KLHL40):c.1305C>A (p.Tyr435Ter)

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