ClinVar Miner

List of variants in gene FERMT1 reported as pathogenic

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Gene type:
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Total variants: 36
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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.1718+2T>C rs760256639 0.00002
NM_017671.5(FERMT1):c.862C>T (p.Arg288Ter) rs121918294 0.00001
NC_000020.10:g.(?_6090925)_(6091178_?)del
NM_017671.4:c.676insC
NM_017671.5(FERMT1):c.1081_1082del (p.Ser361fs)
NM_017671.5(FERMT1):c.1198T>C (p.Ser400Pro) rs869312718
NM_017671.5(FERMT1):c.1209C>G (p.Tyr403Ter)
NM_017671.5(FERMT1):c.1264+1G>A rs1982268239
NM_017671.5(FERMT1):c.1264+363_1372-602del
NM_017671.5(FERMT1):c.1277del (p.Val426fs) rs2123105057
NM_017671.5(FERMT1):c.1371+4A>G rs1064793979
NM_017671.5(FERMT1):c.1378C>T (p.Gln460Ter) rs1982142302
NM_017671.5(FERMT1):c.1714_1715insA (p.Val572fs) rs1568654138
NM_017671.5(FERMT1):c.1756del (p.Ser586fs)
NM_017671.5(FERMT1):c.1848G>A (p.Trp616Ter) rs869312731
NM_017671.5(FERMT1):c.1861-1G>A rs779915885
NM_017671.5(FERMT1):c.1867_1869del (p.Ile623del) rs869312721
NM_017671.5(FERMT1):c.329del (p.Arg110fs)
NM_017671.5(FERMT1):c.341C>G (p.Ser114Ter) rs1983080839
NM_017671.5(FERMT1):c.35G>A (p.Trp12Ter)
NM_017671.5(FERMT1):c.385+1G>T
NM_017671.5(FERMT1):c.385+2T>C rs1411462678
NM_017671.5(FERMT1):c.464del (p.Asn155fs) rs1568664492
NM_017671.5(FERMT1):c.676del (p.Gln226fs)
NM_017671.5(FERMT1):c.676dup (p.Gln226fs) rs748240859
NM_017671.5(FERMT1):c.678dup (p.Ser227fs) rs2123140877
NM_017671.5(FERMT1):c.787C>T (p.Gln263Ter) rs121918292
NM_017671.5(FERMT1):c.850-272_1139+53del
NM_017671.5(FERMT1):c.894G>A (p.Trp298Ter)
NM_017671.5(FERMT1):c.994C>T (p.Gln332Ter) rs2123118335
NM_017671.5:c.892_893insALU
g.6109607_6112272del
g.6116239_6120157del

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