ClinVar Miner

List of variants in gene FREM2 reported as likely benign for Fraser syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_207361.6(FREM2):c.*3731A>C rs41286133 0.01007
NM_207361.6(FREM2):c.6036C>T (p.Phe2012=) rs115455037 0.00893
NM_207361.6(FREM2):c.*1539C>T rs41286131 0.00866
NM_207361.6(FREM2):c.-182G>A rs142232936 0.00862
NM_207361.6(FREM2):c.3753C>T (p.Ser1251=) rs78099370 0.00823
NM_207361.6(FREM2):c.1518C>T (p.Ser506=) rs141821695 0.00784
NM_207361.6(FREM2):c.5264-19T>G rs112155555 0.00631
NM_207361.6(FREM2):c.2600C>T (p.Thr867Ile) rs61995710 0.00520
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) rs143044921 0.00430
NM_207361.6(FREM2):c.7068C>T (p.Ala2356=) rs74577582 0.00410
NM_207361.6(FREM2):c.*6265G>A rs149647289 0.00397
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile) rs116099212 0.00379
NM_207361.6(FREM2):c.4319C>A (p.Thr1440Lys) rs79048205 0.00348
NM_207361.6(FREM2):c.5642-12T>C rs144415935 0.00329
NM_207361.6(FREM2):c.8460C>G (p.Ala2820=) rs138775857 0.00325
NM_207361.6(FREM2):c.*2428G>A rs145248293 0.00312
NM_207361.6(FREM2):c.*6289C>T rs530348914 0.00308
NM_207361.6(FREM2):c.*2390_*2392del rs149897768 0.00283
NM_207361.6(FREM2):c.9266A>G (p.His3089Arg) rs76949956 0.00279
NM_207361.6(FREM2):c.7335T>C (p.Gly2445=) rs141921562 0.00276
NM_207361.6(FREM2):c.2128C>T (p.Arg710Cys) rs41292753 0.00274
NM_207361.6(FREM2):c.*1050G>A rs146348438 0.00239
NM_207361.6(FREM2):c.84C>G (p.Pro28=) rs141718695 0.00194
NM_207361.6(FREM2):c.714G>A (p.Gln238=) rs116236946 0.00150
NM_207361.6(FREM2):c.5544G>A (p.Glu1848=) rs114674141 0.00141
NM_207361.6(FREM2):c.595G>T (p.Ala199Ser) rs151296346 0.00134
NM_207361.6(FREM2):c.9038C>T (p.Thr3013Met) rs114400765 0.00118
NM_207361.6(FREM2):c.5109C>T (p.Ala1703=) rs11619157 0.00096
NM_207361.6(FREM2):c.*3136G>A rs192657481 0.00059
NM_207361.6(FREM2):c.2133G>A (p.Met711Ile) rs115446826 0.00052
NM_207361.6(FREM2):c.4632T>C (p.Ser1544=) rs146140915 0.00043
NM_207361.6(FREM2):c.2538C>A (p.Ile846=) rs377627650 0.00039
NM_207361.6(FREM2):c.4581C>T (p.Ser1527=) rs114925418 0.00039
NM_207361.6(FREM2):c.2480A>C (p.Asn827Thr) rs190810317 0.00029
NM_207361.6(FREM2):c.5279C>T (p.Thr1760Met) rs114171443 0.00022
NM_207361.6(FREM2):c.9007-8C>T rs374741888 0.00021
NM_207361.6(FREM2):c.7216-4G>A rs373594819 0.00012
NM_207361.6(FREM2):c.7359G>A (p.Val2453=) rs115054860 0.00007
NM_207361.6(FREM2):c.1647C>A (p.Phe549Leu) rs114341997 0.00006
NM_207361.6(FREM2):c.4569T>C (p.Arg1523=) rs146585542 0.00005
NM_207361.6(FREM2):c.6465T>C (p.Asp2155=) rs373878188 0.00005
NM_207361.6(FREM2):c.1250T>C (p.Leu417Pro) rs571694324 0.00003
NM_207361.6(FREM2):c.219G>A (p.Val73=) rs115510540 0.00003
NM_207361.6(FREM2):c.335A>G (p.Asn112Ser) rs767098305 0.00003
NM_207361.6(FREM2):c.3747C>T (p.Val1249=) rs773900493 0.00003
NM_207361.6(FREM2):c.111C>T (p.Leu37=) rs765770038 0.00001
NM_207361.6(FREM2):c.4990G>A (p.Ala1664Thr) rs546732114 0.00001
NM_207361.6(FREM2):c.9282A>C (p.Pro3094=) rs549071375 0.00001
NM_207361.6(FREM2):c.*223C>T rs115575417
NM_207361.6(FREM2):c.*2296T>C rs539188773
NM_207361.6(FREM2):c.5625C>T (p.Ile1875=) rs202007498
NM_207361.6(FREM2):c.567C>T (p.Val189=) rs370371340
NM_207361.6(FREM2):c.7520-16_7520-15insGT rs1555272871
NM_207361.6(FREM2):c.7520-5del rs36084034
NM_207361.6(FREM2):c.7520-5dup rs36084034

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