ClinVar Miner

List of variants in gene FREM2 reported as likely pathogenic

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) rs143044921 0.00430
NM_207361.6(FREM2):c.7535G>A (p.Arg2512His) rs61978626 0.00058
NM_207361.6(FREM2):c.3661C>T (p.Pro1221Ser) rs143192660 0.00007
NM_207361.6(FREM2):c.5162dup (p.Phe1722fs) rs769926034 0.00004
NM_207361.6(FREM2):c.2608C>T (p.Gln870Ter) rs750020230 0.00001
NM_207361.6(FREM2):c.6727C>T (p.Arg2243Ter) rs767978562 0.00001
NM_207361.6(FREM2):c.8176+2dup rs779126010 0.00001
NM_207361.5(FREM2):c.[4031G>A];[4558C>T]
NM_207361.6(FREM2):c.2149C>T (p.Gln717Ter)
NM_207361.6(FREM2):c.2303C>G (p.Ser768Ter) rs2138066721
NM_207361.6(FREM2):c.2533C>T (p.His845Tyr) rs1869732816
NM_207361.6(FREM2):c.2833del (p.His945fs) rs759257554
NM_207361.6(FREM2):c.2977dup (p.Glu993fs)
NM_207361.6(FREM2):c.3151C>T (p.Gln1051Ter) rs376122266
NM_207361.6(FREM2):c.3761T>A (p.Leu1254Ter)
NM_207361.6(FREM2):c.3937G>T (p.Glu1313Ter) rs759421771
NM_207361.6(FREM2):c.4538A>G (p.Asp1513Gly) rs1869886793
NM_207361.6(FREM2):c.5263+1G>A rs757243985
NM_207361.6(FREM2):c.5940_5942del (p.Leu1981del) rs775394591
NM_207361.6(FREM2):c.5954dup (p.Met1985fs) rs886043213
NM_207361.6(FREM2):c.6350_6351del (p.Thr2117fs) rs752032044
NM_207361.6(FREM2):c.649C>T (p.Arg217Cys) rs199674984
NM_207361.6(FREM2):c.6625dup (p.Tyr2209fs) rs2137911471
NM_207361.6(FREM2):c.6680_6681dup (p.Phe2228fs)
NM_207361.6(FREM2):c.6925+1G>T
NM_207361.6(FREM2):c.7057-1G>A
NM_207361.6(FREM2):c.7520-6_7520-2del
NM_207361.6(FREM2):c.7546dup (p.Val2516fs)
NM_207361.6(FREM2):c.8344_8345delinsA (p.Leu2782fs)
NM_207361.6(FREM2):c.8351G>A (p.Arg2784Lys) rs863223346
NM_207361.6(FREM2):c.8376del (p.Val2793fs)
NM_207361.6(FREM2):c.8409+1G>A
NM_207361.6(FREM2):c.8544+2T>C

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