List of variants studied for acromelic dysplasia by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001130144.3(LTBP3):c.989C>T (p.Pro330Leu)	rs28403592	0.00056
NM_001104631.2(PDE4D):c.2179C>T (p.Arg727Trp)	rs759832724	0.00001
NM_001110556.2(FLNA):c.546G>C (p.Gln182His)	rs1557179648	0.00001
NM_019023.5(PRMT7):c.454G>A (p.Gly152Arg)	rs200195216	0.00001
NM_000138.5(FBN1):c.8138A>G (p.Glu2713Gly)	rs1555393658
NM_005359.6(SMAD4):c.1308+2T>C	rs1555686624
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)	rs281875322
NM_014112.5(TRPS1):c.1043G>T (p.Cys348Phe)	rs1554596418
NM_014694.4(ADAMTSL2):c.529C>T (p.Arg177Ter)	rs953298656
NM_019023.5(PRMT7):c.1949A>G (p.Tyr650Cys)	rs1033540334

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