ClinVar Miner

List of variants reported as likely benign for Fraser syndrome 2 by Illumina Clinical Services Laboratory,Illumina

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Total variants: 30
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HGVS dbSNP
NM_207361.6(FREM2):c.*1050G>A
NM_207361.6(FREM2):c.*1539C>T rs41286131
NM_207361.6(FREM2):c.*223C>T
NM_207361.6(FREM2):c.*2296T>C rs539188773
NM_207361.6(FREM2):c.*2428G>A rs145248293
NM_207361.6(FREM2):c.*3136G>A
NM_207361.6(FREM2):c.*3731A>C rs41286133
NM_207361.6(FREM2):c.*6265G>A rs149647289
NM_207361.6(FREM2):c.*6289C>T rs530348914
NM_207361.6(FREM2):c.-182G>A rs142232936
NM_207361.6(FREM2):c.1250T>C (p.Leu417Pro) rs571694324
NM_207361.6(FREM2):c.1647C>A (p.Phe549Leu) rs114341997
NM_207361.6(FREM2):c.2128C>T (p.Arg710Cys) rs41292753
NM_207361.6(FREM2):c.2133G>A (p.Met711Ile) rs115446826
NM_207361.6(FREM2):c.2480A>C (p.Asn827Thr) rs190810317
NM_207361.6(FREM2):c.335A>G (p.Asn112Ser) rs767098305
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) rs143044921
NM_207361.6(FREM2):c.4319C>A (p.Thr1440Lys) rs79048205
NM_207361.6(FREM2):c.4990G>A (p.Ala1664Thr) rs546732114
NM_207361.6(FREM2):c.5109C>T (p.Ala1703=) rs11619157
NM_207361.6(FREM2):c.5279C>T (p.Thr1760Met) rs114171443
NM_207361.6(FREM2):c.5642-12T>C rs144415935
NM_207361.6(FREM2):c.595G>T (p.Ala199Ser) rs151296346
NM_207361.6(FREM2):c.7335T>C (p.Gly2445=) rs141921562
NM_207361.6(FREM2):c.8460C>G (p.Ala2820=) rs138775857
NM_207361.6(FREM2):c.84C>G (p.Pro28=) rs141718695
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile) rs116099212
NM_207361.6(FREM2):c.9038C>T (p.Thr3013Met) rs114400765
NM_207361.6(FREM2):c.9266A>G (p.His3089Arg) rs76949956
NM_207361.6(FREM2):c.9282A>C (p.Pro3094=) rs549071375

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