ClinVar Miner

List of variants in gene FREM1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001379081.2(FREM1):c.5212C>A (p.Leu1738Met) rs138267253 0.00314
NM_001379081.2(FREM1):c.3874C>T (p.Arg1292Cys) rs199806592 0.00078
NM_001379081.2(FREM1):c.3331C>T (p.His1111Tyr) rs200339767 0.00068
NM_001379081.2(FREM1):c.3359A>T (p.Gln1120Leu) rs143844459 0.00068
NM_001379081.2(FREM1):c.6465A>G (p.Gln2155=) rs368790874 0.00039
NM_001379081.2(FREM1):c.5854A>T (p.Ile1952Leu) rs201002953 0.00031
NM_001379081.2(FREM1):c.4412G>A (p.Ser1471Asn) rs200650442 0.00025
NM_001379081.2(FREM1):c.3756A>G (p.Gln1252=) rs373197206 0.00022
NM_001379081.2(FREM1):c.550G>A (p.Ala184Thr) rs199682518 0.00019
NM_001379081.2(FREM1):c.3573A>G (p.Pro1191=) rs375774862 0.00006
NM_001379081.2(FREM1):c.578C>G (p.Pro193Arg) rs377565472 0.00006
NM_001379081.2(FREM1):c.5956C>T (p.Leu1986=) rs375669260 0.00006
NM_001379081.2(FREM1):c.1202C>T (p.Thr401Ile) rs781583560 0.00001
NM_001379081.2(FREM1):c.3274+4A>G rs761999855 0.00001
NM_001379081.2(FREM1):c.3562A>G (p.Thr1188Ala) rs761348644 0.00001
NM_001379081.2(FREM1):c.1105G>A (p.Ala369Thr)
NM_001379081.2(FREM1):c.1394G>C (p.Gly465Ala) rs41298151
NM_001379081.2(FREM1):c.1425C>T (p.Asp475=) rs1588306146
NM_001379081.2(FREM1):c.1634T>C (p.Leu545Pro) rs1588304573
NM_001379081.2(FREM1):c.2058A>G (p.Pro686=)
NM_001379081.2(FREM1):c.3357C>A (p.Asp1119Glu)
NM_001379081.2(FREM1):c.3373G>A (p.Val1125Ile)
NM_001379081.2(FREM1):c.3955C>T (p.Pro1319Ser)
NM_001379081.2(FREM1):c.5205-1G>T rs1064797351
NM_001379081.2(FREM1):c.828+5A>C

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