List of variants reported as uncertain significance for Emery-Dreifuss muscular dystrophy 2, autosomal dominant by Illumina Laboratory Services, Illumina

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Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)	rs142191737	0.00025
NM_170707.4(LMNA):c.1698+83G>A	rs555844506	0.00023
NM_170707.4(LMNA):c.-138T>C	rs886045359	0.00009
NM_170707.4(LMNA):c.471G>A (p.Thr157=)	rs150645079	0.00008
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)	rs397517901	0.00004
NM_170707.4(LMNA):c.1517A>C (p.His506Pro)	rs878855233	0.00003
NM_170707.4(LMNA):c.937-8C>A	rs751707982	0.00003
NM_170707.4(LMNA):c.-44T>A	rs1185731069	0.00002
NM_170707.4(LMNA):c.1698+57G>A	rs557334569	0.00002
NM_170707.4(LMNA):c.294G>A (p.Glu98=)	rs886045363	0.00002
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser)	rs886045364	0.00002
NM_005572.3(LMNA):c.-210T>C	rs886045356	0.00001
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp)	rs749784223	0.00001
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln)	rs267607598	0.00001
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)	rs200466188	0.00001
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)	rs60864230	0.00001
NM_170707.4(LMNA):c.514-11C>T	rs886045365	0.00001
NM_170707.4(LMNA):c.749C>T (p.Ala250Val)	rs397517907	0.00001
NM_170707.4(LMNA):c.953C>T (p.Ala318Val)	rs1212920276	0.00001
NM_170707.4(LMNA):c.985C>G (p.Arg329Gly)	rs775159300	0.00001
NM_005572.3(LMNA):c.-226C>T	rs886045354
NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu)	rs505058
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu)	rs11575937
NM_170707.4(LMNA):c.356+12C>A	rs1649747809
NM_170707.4(LMNA):c.796A>G (p.Thr266Ala)	rs1651418246

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