ClinVar Miner

List of variants in gene FREM2 reported as pathogenic by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 68
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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.3297dup (p.Asp1100Ter) rs760715972 0.00002
NM_207361.6(FREM2):c.1231G>T (p.Glu411Ter) rs1324418611 0.00001
NM_207361.6(FREM2):c.1928G>A (p.Trp643Ter) rs897320496 0.00001
NM_207361.6(FREM2):c.2059C>T (p.Gln687Ter) rs376233583 0.00001
NM_207361.6(FREM2):c.2392C>T (p.Arg798Ter) rs922421314 0.00001
NM_207361.6(FREM2):c.3151C>T (p.Gln1051Ter) rs376122266 0.00001
NM_207361.6(FREM2):c.3484C>T (p.Arg1162Ter) rs761934962 0.00001
NM_207361.6(FREM2):c.4063C>T (p.Arg1355Ter) rs765324128 0.00001
NM_207361.6(FREM2):c.4335_4338dup (p.Ser1447delinsHisTer) rs1869871757 0.00001
NM_207361.6(FREM2):c.5982del (p.Ala1996fs) rs746915794 0.00001
NM_207361.6(FREM2):c.6727C>T (p.Arg2243Ter) rs767978562 0.00001
NM_207361.6(FREM2):c.6799_6802dup (p.Glu2268fs) rs1877377994 0.00001
NM_207361.6(FREM2):c.8533C>T (p.Arg2845Ter) rs371448296 0.00001
NM_207361.6(FREM2):c.1545_1552del (p.Gln516fs) rs2541352938
NM_207361.6(FREM2):c.1675C>T (p.Gln559Ter) rs1270636463
NM_207361.6(FREM2):c.187del (p.Ala63fs) rs2541347720
NM_207361.6(FREM2):c.2238del (p.Thr747fs)
NM_207361.6(FREM2):c.2425C>T (p.Arg809Ter) rs761047751
NM_207361.6(FREM2):c.2533del (p.His845fs) rs2541355572
NM_207361.6(FREM2):c.264_265delinsAA (p.Trp88_Leu89delinsTer) rs2541348049
NM_207361.6(FREM2):c.2735_2741del (p.Asp912fs) rs1869751155
NM_207361.6(FREM2):c.2788dup (p.Arg930fs) rs2541356389
NM_207361.6(FREM2):c.2833del (p.His945fs) rs759257554
NM_207361.6(FREM2):c.349C>T (p.Gln117Ter) rs2541348375
NM_207361.6(FREM2):c.3569del (p.Gln1190fs) rs753746099
NM_207361.6(FREM2):c.3589G>T (p.Glu1197Ter) rs2541358394
NM_207361.6(FREM2):c.3691C>T (p.Gln1231Ter) rs2541358709
NM_207361.6(FREM2):c.3931G>T (p.Gly1311Ter) rs770735132
NM_207361.6(FREM2):c.4114C>T (p.Gln1372Ter) rs1431811994
NM_207361.6(FREM2):c.4206_4209del (p.Asn1403fs) rs2541360374
NM_207361.6(FREM2):c.4225del (p.Tyr1409fs) rs2541360429
NM_207361.6(FREM2):c.4501G>T (p.Glu1501Ter) rs2541360961
NM_207361.6(FREM2):c.4527del (p.Gln1510fs) rs34016629
NM_207361.6(FREM2):c.4998_4999del (p.Leu1667fs) rs2541362520
NM_207361.6(FREM2):c.5274_5278del (p.Lys1758fs) rs1186706389
NM_207361.6(FREM2):c.5283C>A (p.Tyr1761Ter)
NM_207361.6(FREM2):c.5309G>A (p.Trp1770Ter) rs1566133616
NM_207361.6(FREM2):c.5428dup (p.Arg1810fs) rs2541427804
NM_207361.6(FREM2):c.5656_5657del (p.Ile1886fs)
NM_207361.6(FREM2):c.5719del (p.Ser1907fs) rs2541437828
NM_207361.6(FREM2):c.5751_5754del (p.Cys1918fs) rs2541437870
NM_207361.6(FREM2):c.5917G>T (p.Glu1973Ter) rs747561441
NM_207361.6(FREM2):c.5926del (p.Thr1976fs) rs771741876
NM_207361.6(FREM2):c.5954dup (p.Met1985fs) rs886043213
NM_207361.6(FREM2):c.5960dup (p.Arg1988fs) rs1203847698
NM_207361.6(FREM2):c.6058del (p.Asp2020fs) rs2541485398
NM_207361.6(FREM2):c.6129_6142dup (p.Arg2048delinsProGlnTer) rs2541485490
NM_207361.6(FREM2):c.6322dup (p.Ala2108fs) rs2541486773
NM_207361.6(FREM2):c.6350_6351del (p.Thr2117fs) rs752032044
NM_207361.6(FREM2):c.6386dup (p.Met2130fs) rs2137910357
NM_207361.6(FREM2):c.6597C>A (p.Cys2199Ter) rs755689589
NM_207361.6(FREM2):c.6716_6717del (p.Leu2239fs) rs2541488882
NM_207361.6(FREM2):c.6784G>T (p.Glu2262Ter) rs2541489493
NM_207361.6(FREM2):c.678_679del (p.Leu227fs) rs2541349823
NM_207361.6(FREM2):c.6806C>A (p.Ser2269Ter) rs148249231
NM_207361.6(FREM2):c.6964G>T (p.Glu2322Ter) rs2541492816
NM_207361.6(FREM2):c.7002_7005del (p.Glu2335fs) rs768342700
NM_207361.6(FREM2):c.7060_7066del (p.Thr2354fs) rs1877619819
NM_207361.6(FREM2):c.7105dup (p.Val2369fs) rs2541494324
NM_207361.6(FREM2):c.710del (p.Pro237fs)
NM_207361.6(FREM2):c.7477_7478del (p.Leu2493fs) rs2541495847
NM_207361.6(FREM2):c.8159dup (p.Glu2721fs) rs967339760
NM_207361.6(FREM2):c.837G>A (p.Trp279Ter) rs2541350517
NM_207361.6(FREM2):c.8883del (p.Ala2962fs) rs748071471
NM_207361.6(FREM2):c.905_906del (p.His302fs) rs2541350760

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