List of variants reported as uncertain significance for hereditary skeletal muscle disorder by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_181458.4(PAX3):c.944C>A (p.Thr315Lys)	rs2234675	0.02573
NM_001927.4(DES):c.638C>T (p.Ala213Val)	rs41272699	0.01015
NM_000245.4(MET):c.2975C>T (p.Thr992Ile)	rs56391007	0.00911
NM_001849.4(COL6A2):c.*5G>A	rs377195134	0.00026
NM_201384.3(PLEC):c.8801C>T (p.Thr2934Met)	rs368122904	0.00013
NM_182961.4(SYNE1):c.21377A>G (p.Lys7126Arg)	rs145882956	0.00011
NM_032608.7(MYO18B):c.2879C>T (p.Ala960Val)	rs147134820	0.00010
NM_017739.4(POMGNT1):c.550C>T (p.His184Tyr)	rs746638187	0.00005
NM_032608.7(MYO18B):c.3397C>T (p.Arg1133Trp)	rs775800465	0.00004
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)	rs397517901	0.00004
NM_001159699.2(FHL1):c.29C>G (p.Ser10Cys)	rs1603270381
NM_001379081.2(FREM1):c.1394G>C (p.Gly465Ala)	rs41298151
NM_004369.4(COL6A3):c.985G>A (p.Val329Met)	rs542283928
NM_005876.5(SPEG):c.6971T>A (p.Ile2324Asn)	rs201170917
NM_005876.5(SPEG):c.9575C>A (p.Thr3192Asn)	rs534715710
NM_017739.4(POMGNT1):c.461C>A (p.Pro154His)	rs886043030
NM_201384.3(PLEC):c.6511A>G (p.Lys2171Glu)	rs1554692271

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