ClinVar Miner

List of variants in gene FREM1 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln) rs184394424 0.00107
NM_001379081.2(FREM1):c.5622G>C (p.Trp1874Cys) rs61745612 0.00087
NM_001379081.2(FREM1):c.3631C>T (p.Pro1211Ser) rs76714828 0.00064
NM_001379081.2(FREM1):c.5123T>C (p.Ile1708Thr) rs200472299 0.00055
NM_001379081.2(FREM1):c.541C>T (p.Arg181Trp) rs200482899 0.00052
NM_001379081.2(FREM1):c.4489A>T (p.Ile1497Phe) rs377466529 0.00035
NM_001379081.2(FREM1):c.6021C>G (p.Pro2007=) rs200987019 0.00030
NM_001379081.2(FREM1):c.3471+9C>T rs377668876 0.00013
NM_001379081.2(FREM1):c.3857T>G (p.Met1286Arg) rs375951503 0.00013
NM_001379081.2(FREM1):c.5155G>A (p.Val1719Met) rs201617511 0.00011
NM_001379081.2(FREM1):c.261C>T (p.Asn87=) rs370943663 0.00009
NM_001379081.2(FREM1):c.571G>A (p.Gly191Arg) rs370556388 0.00009
NM_001379081.2(FREM1):c.241G>A (p.Asp81Asn) rs749580522 0.00004
NM_001379081.2(FREM1):c.3932T>C (p.Ile1311Thr) rs182527895 0.00004
NM_001379081.2(FREM1):c.292A>G (p.Ile98Val) rs371148891 0.00001
NM_001379081.2(FREM1):c.3030G>A (p.Val1010=) rs1360682452 0.00001
NM_001379081.2(FREM1):c.382C>G (p.Leu128Val) rs886043843 0.00001
NM_001379081.2(FREM1):c.3513C>G (p.Ile1171Met) rs774280190
NM_001379081.2(FREM1):c.4367G>A (p.Ser1456Asn) rs794727407

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