List of variants reported as pathogenic for Imagawa-Matsumoto syndrome

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 17q11.2-12(chr17:29989741-32355632)
NM_015355.4(SUZ12):c.1657C>T (p.Gln553Ter)	rs1909936773
NM_015355.4(SUZ12):c.1797A>C (p.Gln599His)	rs1567840381
NM_015355.4(SUZ12):c.1807T>C (p.Phe603Leu)	rs1598192095
NM_015355.4(SUZ12):c.1829A>T (p.Glu610Val)	rs1131692177
NM_015355.4(SUZ12):c.1960C>T (p.Arg654Ter)	rs771704089
NM_015355.4(SUZ12):c.386+1G>A	rs2142117453
NM_015355.4(SUZ12):c.844_845del (p.Ala282fs)	rs1598174225

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