ClinVar Miner

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

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 30
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HGVS dbSNP gnomAD frequency
NM_207361.6(FREM2):c.2128C>T (p.Arg710Cys) rs41292753 0.00274
NM_207361.6(FREM2):c.9113T>C (p.Val3038Ala) rs114688149 0.00204
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.9038C>T (p.Thr3013Met) rs114400765 0.00118
NM_207361.6(FREM2):c.7429C>T (p.Arg2477Trp) rs143571375 0.00115
NM_207361.6(FREM2):c.3539C>G (p.Pro1180Arg) rs139236965 0.00107
NM_207361.6(FREM2):c.5417G>A (p.Gly1806Asp) rs145208009 0.00101
NM_207361.6(FREM2):c.2367G>A (p.Pro789=) rs140101984 0.00095
NM_207361.6(FREM2):c.1580C>T (p.Ser527Leu) rs139804851 0.00084
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.2754C>T (p.Val918=) rs140353326 0.00046
NM_207361.6(FREM2):c.4960A>C (p.Ser1654Arg) rs114595447 0.00046
NM_207361.6(FREM2):c.8337C>T (p.Ser2779=) rs181564966 0.00028
NM_207361.6(FREM2):c.7062G>A (p.Thr2354=) rs41286130 0.00026
NM_207361.6(FREM2):c.9009C>T (p.Val3003=) rs145657148 0.00026
NM_207361.6(FREM2):c.6743-9C>T rs749834830 0.00013
NM_207361.6(FREM2):c.1737C>T (p.Ile579=) rs144811771 0.00012
NM_207361.6(FREM2):c.6333C>T (p.Gly2111=) rs116763572 0.00010
NM_207361.6(FREM2):c.1647C>A (p.Phe549Leu) rs114341997 0.00006
NM_207361.6(FREM2):c.6807G>A (p.Ser2269=) rs752080876 0.00005
NM_207361.6(FREM2):c.8509C>T (p.Pro2837Ser) rs766715445 0.00004
NM_207361.6(FREM2):c.1250T>C (p.Leu417Pro) rs571694324 0.00003
NM_207361.6(FREM2):c.7177G>A (p.Ala2393Thr) rs769767420 0.00001
NM_207361.6(FREM2):c.3035_3040dup (p.Gly1012_Ser1013dup) rs570476408
NM_207361.6(FREM2):c.305G>C (p.Gly102Ala)
NM_207361.6(FREM2):c.7329T>A (p.Pro2443=) rs1303270704
NM_207361.6(FREM2):c.850G>C (p.Val284Leu) rs770004356
NM_207361.6(FREM2):c.87GCT[8] (p.Leu38_Ser39insLeu)

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