List of variants in gene FERMT1 reported as likely benign for obsolete hereditary acrokeratotic poikiloderma of Kindler-Weary

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_017671.4(FERMT1):c.-655C>T	rs188963072	0.01032
NM_017671.4(FERMT1):c.-609G>A	rs184246100	0.00349
NM_017671.5(FERMT1):c.*298G>T	rs115761930	0.00294
NM_017671.5(FERMT1):c.*266A>C	rs144550350	0.00191
NM_017671.5(FERMT1):c.1383C>T (p.Tyr461=)	rs142328166	0.00150
NM_017671.5(FERMT1):c.747-12G>A	rs138474338	0.00125
NM_017671.5(FERMT1):c.1627G>A (p.Val543Met)	rs76933768	0.00061
NM_017671.4(FERMT1):c.-588C>T	rs572613950	0.00056
NM_017671.5(FERMT1):c.*59A>G	rs191481526	0.00053
NM_017671.5(FERMT1):c.293G>A (p.Arg98His)	rs137862671	0.00026
NM_017671.5(FERMT1):c.*1365C>A	rs550060762	0.00011
NM_017671.5(FERMT1):c.1792G>A (p.Gly598Arg)	rs142825013	0.00004
NM_017671.5(FERMT1):c.*2204T>C	rs369543395	0.00001
NM_017671.5(FERMT1):c.*2118A>G	rs529395851

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