ClinVar Miner

List of variants in gene FREM2 reported as pathogenic for not provided

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Gene type:
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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_207361.6(FREM2):c.5162dup (p.Phe1722fs) rs769926034 0.00004
NM_207361.6(FREM2):c.6499C>T (p.Arg2167Trp) rs114837786 0.00003
NM_207361.6(FREM2):c.2206C>T (p.Arg736Ter) rs939534674 0.00002
NM_207361.6(FREM2):c.4063C>T (p.Arg1355Ter) rs765324128 0.00001
NM_207361.6(FREM2):c.4396C>T (p.Arg1466Ter) rs1333928954 0.00001
NM_207361.6(FREM2):c.6727C>T (p.Arg2243Ter) rs767978562 0.00001
NM_207361.6(FREM2):c.1231G>T (p.Glu411Ter)
NM_207361.6(FREM2):c.1545_1552del (p.Gln516fs)
NM_207361.6(FREM2):c.1675C>T (p.Gln559Ter)
NM_207361.6(FREM2):c.187del (p.Ala63fs)
NM_207361.6(FREM2):c.1928G>A (p.Trp643Ter)
NM_207361.6(FREM2):c.2059C>T (p.Gln687Ter)
NM_207361.6(FREM2):c.2392C>T (p.Arg798Ter)
NM_207361.6(FREM2):c.2425C>T (p.Arg809Ter)
NM_207361.6(FREM2):c.2533del (p.His845fs)
NM_207361.6(FREM2):c.264_265delinsAA (p.Trp88_Leu89delinsTer)
NM_207361.6(FREM2):c.2735_2741del (p.Asp912fs)
NM_207361.6(FREM2):c.2788dup (p.Arg930fs)
NM_207361.6(FREM2):c.2833del (p.His945fs) rs759257554
NM_207361.6(FREM2):c.3151C>T (p.Gln1051Ter) rs376122266
NM_207361.6(FREM2):c.3297dup (p.Asp1100Ter)
NM_207361.6(FREM2):c.3484C>T (p.Arg1162Ter)
NM_207361.6(FREM2):c.349C>T (p.Gln117Ter)
NM_207361.6(FREM2):c.3569del (p.Gln1190fs)
NM_207361.6(FREM2):c.3589G>T (p.Glu1197Ter)
NM_207361.6(FREM2):c.3691C>T (p.Gln1231Ter)
NM_207361.6(FREM2):c.3931G>T (p.Gly1311Ter)
NM_207361.6(FREM2):c.3955dup (p.Thr1319fs) rs2138070304
NM_207361.6(FREM2):c.4114C>T (p.Gln1372Ter)
NM_207361.6(FREM2):c.4206_4209del (p.Asn1403fs)
NM_207361.6(FREM2):c.4225del (p.Tyr1409fs)
NM_207361.6(FREM2):c.4335_4338dup (p.Ser1447delinsHisTer)
NM_207361.6(FREM2):c.446_455del (p.Asp149fs) rs1555260833
NM_207361.6(FREM2):c.4501G>T (p.Glu1501Ter)
NM_207361.6(FREM2):c.4527del (p.Gln1510fs)
NM_207361.6(FREM2):c.4998_4999del (p.Leu1667fs)
NM_207361.6(FREM2):c.5274_5278del (p.Lys1758fs)
NM_207361.6(FREM2):c.5309G>A (p.Trp1770Ter) rs1566133616
NM_207361.6(FREM2):c.5428dup (p.Arg1810fs)
NM_207361.6(FREM2):c.5719del (p.Ser1907fs)
NM_207361.6(FREM2):c.5751_5754del (p.Cys1918fs)
NM_207361.6(FREM2):c.5917G>T (p.Glu1973Ter)
NM_207361.6(FREM2):c.5926del (p.Thr1976fs)
NM_207361.6(FREM2):c.5954dup (p.Met1985fs) rs886043213
NM_207361.6(FREM2):c.5960dup (p.Arg1988fs)
NM_207361.6(FREM2):c.5982del (p.Ala1996fs)
NM_207361.6(FREM2):c.6058del (p.Asp2020fs)
NM_207361.6(FREM2):c.6129_6142dup (p.Arg2048delinsProGlnTer)
NM_207361.6(FREM2):c.6322dup (p.Ala2108fs)
NM_207361.6(FREM2):c.6386dup (p.Met2130fs) rs2137910357
NM_207361.6(FREM2):c.6597C>A (p.Cys2199Ter)
NM_207361.6(FREM2):c.6716_6717del (p.Leu2239fs)
NM_207361.6(FREM2):c.6784G>T (p.Glu2262Ter)
NM_207361.6(FREM2):c.678_679del (p.Leu227fs)
NM_207361.6(FREM2):c.6799_6802dup (p.Glu2268fs)
NM_207361.6(FREM2):c.6806C>A (p.Ser2269Ter)
NM_207361.6(FREM2):c.6964G>T (p.Glu2322Ter)
NM_207361.6(FREM2):c.7002_7005del (p.Glu2335fs) rs768342700
NM_207361.6(FREM2):c.7060_7066del (p.Thr2354fs)
NM_207361.6(FREM2):c.7105dup (p.Val2369fs)
NM_207361.6(FREM2):c.7477_7478del (p.Leu2493fs)
NM_207361.6(FREM2):c.8159dup (p.Glu2721fs)
NM_207361.6(FREM2):c.837G>A (p.Trp279Ter)
NM_207361.6(FREM2):c.8533C>T (p.Arg2845Ter)
NM_207361.6(FREM2):c.8883del (p.Ala2962fs)
NM_207361.6(FREM2):c.905_906del (p.His302fs)

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