List of variants reported as pathogenic for hereditary skeletal muscle disorder by Palindrome, Gene Kavoshgaran Aria

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001953.5(TYMP):c.235C>T (p.Arg79Ter)	rs2069504242	0.00001
NM_000232.5(SGCB):c.28G>T (p.Glu10Ter)	rs1448040082
NM_000426.4(LAMA2):c.4399C>T (p.Gln1467Ter)
NM_000426.4(LAMA2):c.7573-1G>A
NM_004006.3(DMD):c.4845+2T>C	rs1557315881
NM_020451.3(SELENON):c.1446del (p.Asn483fs)	rs2124454648

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