List of variants studied for obsolete hereditary acrokeratotic poikiloderma of Kindler-Weary by GeneReviews

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Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_017671.5(FERMT1):c.811C>T (p.Arg271Ter)	rs121918293	0.00006
NM_017671.5(FERMT1):c.910G>T (p.Glu304Ter)	rs146180696	0.00005
NM_017671.5(FERMT1):c.328C>T (p.Arg110Ter)	rs765716291	0.00004
NM_017671.5(FERMT1):c.862C>T (p.Arg288Ter)	rs121918294	0.00001
NC_000020.11:g.6122304_6124256del
NM_017671.4:c.676insC
NM_017671.5(FERMT1):c.-20A>G	rs869312722
NM_017671.5(FERMT1):c.1139+2T>C	rs869312727
NM_017671.5(FERMT1):c.1176T>G (p.Tyr392Ter)	rs869312730
NM_017671.5(FERMT1):c.1383C>A (p.Tyr461Ter)	rs142328166
NM_017671.5(FERMT1):c.456dup (p.Asp153fs)	rs2123144933
NM_017671.5(FERMT1):c.550dup (p.Ser184fs)	rs869312724
NM_017671.5(FERMT1):c.676C>T (p.Gln226Ter)	rs767540244
NM_017671.5(FERMT1):c.676dup (p.Gln226fs)	rs748240859
NM_017671.5(FERMT1):c.850-272_1139+53del
NM_017671.5(FERMT1):c.889A>G (p.Arg297Gly)	rs779612399
NM_017671.5(FERMT1):c.957+1G>A	rs869312725
NM_017671.5(FERMT1):c.994_995del (p.Gln332fs)	rs866141540
g.6109607_6112272del
g.6116239_6120157del

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