List of variants reported as uncertain significance for hereditary skeletal muscle disorder by Myriad Genetics, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu)	rs144636654	0.00112
NM_000426.4(LAMA2):c.9211+6T>C	rs201375881	0.00091
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn)	rs146923842	0.00073
NM_000231.3(SGCG):c.235C>T (p.Arg79Cys)	rs148404730	0.00027
NM_000426.4(LAMA2):c.542A>G (p.Asn181Ser)	rs143664472	0.00014
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln)	rs148860301	0.00003
NM_000070.3(CAPN3):c.632+3A>G	rs201660362	0.00001
NM_000426.4(LAMA2):c.6599G>A (p.Arg2200His)	rs779326725	0.00001
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys)	rs757820496	0.00001
NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His)	rs762972459	0.00001
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)	rs372210292
NM_001164508.2(NEB):c.1569+1G>A	rs1553605553

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