List of variants reported as pathogenic for mandibuloacral dysplasia progeroid syndrome

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_006554.5(MTX2):c.208+3_208+6del	rs1575058847
NM_006554.5(MTX2):c.295_296del (p.Ser98_Leu99insTer)	rs768727228
NM_006554.5(MTX2):c.2T>A (p.Met1Lys)	rs1392596720
NM_006554.5(MTX2):c.544-1G>C	rs1575062905
NM_006554.5(MTX2):c.603del (p.Tyr202fs)	rs1575062987

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