List of variants reported as pathogenic for Dowling-Degos disease 2

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_015352.2(POFUT1):c.246+5del
NM_015352.2(POFUT1):c.289C>T (p.Gln97Ter)	rs1569152303
NM_015352.2(POFUT1):c.430G>T (p.Glu144Ter)	rs398123038
NM_015352.2(POFUT1):c.482del (p.Lys161fs)	rs886041033
NM_015352.2(POFUT1):c.889_890del (p.Trp297fs)	rs2122601454

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