List of variants reported as uncertain significance for X-linked Emery-Dreifuss muscular dystrophy by Revvity Omics, Revvity

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000117.3(EMD):c.470G>A (p.Arg157Gln)	rs148515772	0.00009
NM_000117.3(EMD):c.454C>T (p.Arg152Cys)	rs376456050	0.00006
NM_000117.3(EMD):c.671C>T (p.Pro224Leu)	rs782559230	0.00003
NM_000117.3(EMD):c.422C>T (p.Ser141Phe)	rs1262954618	0.00002
NM_000117.3(EMD):c.610C>T (p.Arg204Cys)	rs782299893	0.00002
NM_000117.3(EMD):c.103G>A (p.Glu35Lys)	rs782222974	0.00001
NM_000117.3(EMD):c.400G>A (p.Val134Met)	rs201250825	0.00001
NM_000117.3(EMD):c.403C>T (p.His135Tyr)	rs782110153	0.00001
NM_000117.3(EMD):c.321G>T (p.Glu107Asp)
NM_000117.3(EMD):c.455G>A (p.Arg152His)
NM_000117.3(EMD):c.500A>G (p.Tyr167Cys)	rs2067884177
NM_000117.3(EMD):c.524G>A (p.Ser175Asn)
NM_000117.3(EMD):c.553T>C (p.Ser185Pro)
NM_000117.3(EMD):c.571A>G (p.Met191Val)	rs397515752
NM_000117.3(EMD):c.610C>G (p.Arg204Gly)	rs782299893
NM_000117.3(EMD):c.82+3A>G

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