List of variants reported as pathogenic for facioscapulohumeral muscular dystrophy by OMIM

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_006892.4(DNMT3B):c.2072C>T (p.Pro691Leu)	rs889145646	0.00001
NM_015295.3(SMCHD1):c.1580C>T (p.Thr527Met)	rs397518422	0.00001
NM_006892.4(DNMT3B):c.1579T>C (p.Cys527Arg)	rs2146029958
NM_015295.3(SMCHD1):c.1302_1306del (p.Tyr434_Arg436delinsTer)	rs387907319
NM_015295.3(SMCHD1):c.1608del (p.Asp537fs)	rs1057519614
NM_015295.3(SMCHD1):c.182_183dup (p.Gln62fs)	rs2073052786
NM_015295.3(SMCHD1):c.2068C>T (p.Pro690Ser)	rs397514623
NM_015295.3(SMCHD1):c.2129dup (p.Ala711fs)	rs2074549354
NM_015295.3(SMCHD1):c.3469G>T (p.Gly1157Ter)	rs2075308386
NM_015295.3(SMCHD1):c.3801+1G>A	rs886042417
NM_015295.3(SMCHD1):c.410G>A (p.Gly137Glu)	rs1057519644
NM_015295.3(SMCHD1):c.4566G>A (p.Thr1522=)	rs1598416221
NM_015295.3(SMCHD1):c.5150_5151del (p.Lys1717fs)
NM_018372.4(LRIF1):c.869_872dup (p.Trp291Ter)	rs2101110148

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