ClinVar Miner

List of variants in gene FERMT1 reported as benign by Invitae

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Gene type:
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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_017671.5(FERMT1):c.114T>C (p.His38=) rs10373 0.51823
NM_017671.5(FERMT1):c.1577G>A (p.Arg526Lys) rs2232074 0.41183
NM_017671.5(FERMT1):c.1575A>G (p.Lys525=) rs2232073 0.41177
NM_017671.5(FERMT1):c.152-4G>A rs2295435 0.39838
NM_017671.5(FERMT1):c.1695T>C (p.Phe565=) rs753927 0.36989
NM_017671.5(FERMT1):c.533-17A>C rs11087717 0.14842
NM_017671.5(FERMT1):c.1674G>A (p.Ala558=) rs2232079 0.14462
NM_017671.5(FERMT1):c.211C>T (p.Leu71=) rs1056141 0.10325
NM_017671.5(FERMT1):c.479T>C (p.Ile160Thr) rs16991866 0.09972
NM_017671.5(FERMT1):c.532+8T>C rs41308641 0.08888
NM_017671.5(FERMT1):c.763C>T (p.Arg255Cys) rs62200482 0.06354
NM_017671.5(FERMT1):c.151+20C>T rs78449803 0.05418
NM_017671.5(FERMT1):c.1264+14A>G rs111975159 0.05267
NM_017671.5(FERMT1):c.1153C>T (p.Leu385=) rs35413391 0.05264
NM_017671.5(FERMT1):c.234C>T (p.Asp78=) rs57272794 0.03636
NM_017671.5(FERMT1):c.722T>C (p.Val241Ala) rs55666319 0.03439
NM_017671.5(FERMT1):c.1884C>T (p.Asn628=) rs2232083 0.00821
NM_017671.5(FERMT1):c.1416G>A (p.Ser472=) rs148992845 0.00616
NM_017671.5(FERMT1):c.467A>G (p.Asn156Ser) rs138019177 0.00558
NM_017671.5(FERMT1):c.1861-8T>C rs2232082 0.00523
NM_017671.5(FERMT1):c.1600G>A (p.Ala534Thr) rs2232078 0.00503
NM_017671.5(FERMT1):c.51C>T (p.Arg17=) rs147105196 0.00502
NM_017671.5(FERMT1):c.1139+13T>C rs143153145 0.00228
NM_017671.5(FERMT1):c.606_608del (p.Met203del) rs150175364 0.00178
NM_017671.5(FERMT1):c.1014C>T (p.Ser338=) rs138986656 0.00159
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.1791C>T (p.Thr597=) rs768944793 0.00016
NM_017671.5(FERMT1):c.1762A>G (p.Asn588Asp) rs185314931 0.00014
NM_017671.5(FERMT1):c.888C>T (p.Ala296=) rs748808480 0.00013
NM_017671.5(FERMT1):c.898A>G (p.Ile300Val) rs780949811 0.00006
NM_017671.5(FERMT1):c.1035G>A (p.Ala345=) rs141793633 0.00005
NM_017671.5(FERMT1):c.1593+5T>C rs555063747 0.00004
NM_017671.5(FERMT1):c.1592A>G (p.Gln531Arg) rs758553172 0.00002
NM_017671.5(FERMT1):c.1090-6dup
NM_017671.5(FERMT1):c.1371+18_1371+19del rs769840965
NM_017671.5(FERMT1):c.386-14dup
NM_017671.5(FERMT1):c.675C>A (p.Pro225=) rs141656399
NM_017671.5(FERMT1):c.695C>A (p.Ala232Glu)

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