List of variants reported as uncertain significance for Polyendocrine-polyneuropathy syndrome

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001378457.1(DMXL2):c.1478G>A (p.Arg493Gln)	rs1469637709	0.00001
NM_001378457.1(DMXL2):c.2114A>C (p.Gln705Pro)	rs2048287073	0.00001
NM_001378457.1(DMXL2):c.3385G>A (p.Val1129Ile)	rs2043456849
NM_001378457.1(DMXL2):c.5020A>C (p.Lys1674Gln)	rs1438220307
NM_001378457.1(DMXL2):c.5492A>G (p.Lys1831Arg)	rs1567009809
NM_001378457.1(DMXL2):c.5827_5841del (p.Asp1943_Ser1947del)	rs606231461
NM_001378457.1(DMXL2):c.7699G>A (p.Gly2567Ser)	rs776139593
NM_001378457.1(DMXL2):c.8794C>A (p.Pro2932Thr)	rs2039022160

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