ClinVar Miner

Variants in gene FREM1 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 16
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HGVS dbSNP gnomAD frequency
NM_001379081.2(FREM1):c.3819T>A (p.Asp1273Glu) rs7025814 0.06135
NM_001379081.2(FREM1):c.4963G>A (p.Val1655Met) rs114410606 0.00315
NM_001379081.2(FREM1):c.6528C>T (p.Ser2176=) rs144454947 0.00238
NM_001379081.2(FREM1):c.4711G>A (p.Asp1571Asn) rs115421185 0.00224
NM_001379081.2(FREM1):c.5205-14C>T rs77061232 0.00153
NM_001379081.2(FREM1):c.1464C>T (p.Ser488=) rs200064797 0.00151
NM_001379081.2(FREM1):c.6258C>T (p.Tyr2086=) rs187325866 0.00113
NM_001379081.2(FREM1):c.3147C>T (p.Ser1049=) rs200894045 0.00092
NM_001379081.2(FREM1):c.3359A>T (p.Gln1120Leu) rs143844459 0.00068
NM_001379081.2(FREM1):c.4859T>C (p.Val1620Ala) rs190763692 0.00037
NM_001379081.2(FREM1):c.6474G>A (p.Gly2158=) rs559897025 0.00015
NM_001379081.2(FREM1):c.4626C>T (p.Leu1542=) rs367674769 0.00009
NM_001379081.2(FREM1):c.3330G>A (p.Arg1110=) rs546375818 0.00007
NM_001379081.2(FREM1):c.1492C>T (p.Arg498Trp) rs200642807 0.00006
NM_001379081.2(FREM1):c.4563C>A (p.Ala1521=) rs60091943
NM_001379081.2(FREM1):c.459G>T (p.Ala153=) rs562673690

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