ClinVar Miner

Variants in gene FREM2 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 25
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HGVS dbSNP gnomAD frequency
NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser) rs2496425 0.43515
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) rs143044921 0.00430
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile) rs116099212 0.00379
NM_207361.6(FREM2):c.8460C>G (p.Ala2820=) rs138775857 0.00325
NM_207361.6(FREM2):c.9071A>G (p.Asn3024Ser) rs115149211 0.00261
NM_207361.6(FREM2):c.84C>G (p.Pro28=) rs141718695 0.00194
NM_207361.6(FREM2):c.7323G>A (p.Ala2441=) rs147563277 0.00155
NM_207361.6(FREM2):c.5642-9T>C rs148794835 0.00141
NM_207361.6(FREM2):c.2740T>G (p.Cys914Gly) rs146685625 0.00127
NM_207361.6(FREM2):c.2367G>A (p.Pro789=) rs140101984 0.00095
NM_207361.6(FREM2):c.8671+14A>G rs182974545 0.00088
NM_207361.6(FREM2):c.177T>C (p.Gly59=) rs370018440 0.00079
NM_207361.6(FREM2):c.2823C>T (p.Pro941=) rs150154438 0.00079
NM_207361.6(FREM2):c.7590C>T (p.Gly2530=) rs200338297 0.00079
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.2180G>A (p.Arg727His) rs201714905 0.00021
NM_207361.6(FREM2):c.9337A>G (p.Thr3113Ala) rs202106776 0.00014
NM_207361.6(FREM2):c.6669A>G (p.Gln2223=) rs114333791 0.00012
NM_207361.6(FREM2):c.5790G>A (p.Pro1930=) rs114346379 0.00010
NM_207361.6(FREM2):c.1250T>C (p.Leu417Pro) rs571694324 0.00003
NM_207361.6(FREM2):c.5138A>G (p.Asp1713Gly) rs778728471 0.00002
NM_207361.6(FREM2):c.1122T>A (p.Asp374Glu)
NM_207361.6(FREM2):c.2308G>A (p.Val770Met) rs7327915
NM_207361.6(FREM2):c.3035_3040dup (p.Gly1012_Ser1013dup) rs570476408

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