ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001379081.2(FREM1):c.2587C>G (p.Leu863Val) rs7041710 0.12780
NM_001379081.2(FREM1):c.4466G>A (p.Arg1489Gln) rs61732355 0.01493
NM_001379081.2(FREM1):c.4727A>T (p.Asn1576Ile) rs2101770 0.00620
NM_001379081.2(FREM1):c.3575G>A (p.Arg1192His) rs79023327 0.00551
NM_001379081.2(FREM1):c.2274C>A (p.Gly758=) rs12235714 0.00497
NM_001379081.2(FREM1):c.4711G>A (p.Asp1571Asn) rs115421185 0.00244
NM_001379081.2(FREM1):c.3485A>G (p.Gln1162Arg) rs113555227 0.00160
NM_001379081.2(FREM1):c.1464C>T (p.Ser488=) rs200064797 0.00155
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln) rs184394424 0.00107
NM_001379081.2(FREM1):c.3147C>T (p.Ser1049=) rs200894045 0.00092
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
NM_001379081.2(FREM1):c.4941C>A (p.Tyr1647Ter) rs373880888
NM_001379081.2(FREM1):c.5335-11dup rs140882884

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