ClinVar Miner

List of variants studied for Emery-Dreifuss muscular dystrophy 2, autosomal dominant by Illumina Clinical Services Laboratory,Illumina

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Total variants: 44
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HGVS dbSNP
NM_001282625.2(LMNA):c.-206-17C>T
NM_005572.3(LMNA):c.-210T>C rs886045356
NM_005572.3(LMNA):c.-226C>T rs886045354
NM_005572.4(LMNA):c.1338T>C (p.Asp446=) rs505058
NM_005572.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_005572.4(LMNA):c.1566C>T (p.Cys522=) rs149339264
NM_005572.4(LMNA):c.1584G>A (p.Thr528=) rs80356812
NM_005572.4(LMNA):c.1634G>A (p.Arg545His) rs142191737
NM_005572.4(LMNA):c.1698C>T (p.His566=) rs4641
NM_005572.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901
NM_005572.4(LMNA):c.357C>T (p.Arg119=) rs41313880
NM_005572.4(LMNA):c.51C>T (p.Ser17=) rs11549668
NM_005572.4(LMNA):c.612G>A (p.Leu204=) rs12117552
NM_005572.4(LMNA):c.749C>T (p.Ala250Val) rs397517907
NM_005572.4(LMNA):c.810+13G>T rs11264444
NM_005572.4(LMNA):c.811-13T>A rs80356809
NM_005572.4(LMNA):c.861T>C (p.Ala287=) rs538089
NM_170707.4(LMNA):c.-128T>C rs80356803
NM_170707.4(LMNA):c.-138T>C rs886045359
NM_170707.4(LMNA):c.-44T>A
NM_170707.4(LMNA):c.-88G>T rs115800510
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) rs749784223
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603
NM_170707.4(LMNA):c.1227A>G (p.Thr409=) rs762130433
NM_170707.4(LMNA):c.1324G>A (p.Val442Met) rs368542816
NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu)
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln) rs267607598
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu) rs11575937
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188
NM_170707.4(LMNA):c.1488+14C>T rs377700689
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745
NM_170707.4(LMNA):c.1517A>C (p.His506Pro) rs878855233
NM_170707.4(LMNA):c.1698+57G>A rs557334569
NM_170707.4(LMNA):c.1698+83G>A
NM_170707.4(LMNA):c.294G>A (p.Glu98=) rs886045363
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser) rs886045364
NM_170707.4(LMNA):c.356+12C>A
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) rs60864230
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079
NM_170707.4(LMNA):c.514-11C>T rs886045365
NM_170707.4(LMNA):c.796A>G (p.Thr266Ala)
NM_170707.4(LMNA):c.937-8C>A rs751707982
NM_170707.4(LMNA):c.953C>T (p.Ala318Val) rs1212920276
NM_170707.4(LMNA):c.985C>G (p.Arg329Gly) rs775159300

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