List of variants in gene FREM2 reported as likely benign for Fraser syndrome 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_207361.6(FREM2):c.*3731A>C	rs41286133	0.01007
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.4031G>A (p.Arg1344His)	rs143044921	0.00430
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.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.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.2480A>C (p.Asn827Thr)	rs190810317	0.00029
NM_207361.6(FREM2):c.5279C>T (p.Thr1760Met)	rs114171443	0.00022
NM_207361.6(FREM2):c.1647C>A (p.Phe549Leu)	rs114341997	0.00006
NM_207361.6(FREM2):c.1250T>C (p.Leu417Pro)	rs571694324	0.00003
NM_207361.6(FREM2):c.335A>G (p.Asn112Ser)	rs767098305	0.00003
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

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