ClinVar Miner

List of variants in gene F5 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000130.5(F5):c.1601= (p.Arg534=) rs6025 0.98238
NM_000130.5(F5):c.5290A>G (p.Met1764Val) rs6030 0.29437
NM_000130.5(F5):c.2573A>G (p.Lys858Arg) rs4524 0.24159
NM_000130.5(F5):c.1242A>G (p.Lys414=) rs6035 0.08632
NM_000130.5(F5):c.3845A>G (p.His1282Arg) rs143333036 0.00389
NM_000130.5(F5):c.2129A>G (p.His710Arg) rs115954845 0.00366
NM_000130.5(F5):c.6309G>A (p.Leu2103=) rs35369423 0.00361
NM_000130.5(F5):c.4923C>T (p.Leu1641=) rs116809837 0.00272
NM_000130.5(F5):c.6554A>G (p.Lys2185Arg) rs6679078 0.00271
NM_000130.5(F5):c.3162A>C (p.Glu1054Asp) rs149026031 0.00216
NM_000130.5(F5):c.1539A>G (p.Arg513=) rs140627208 0.00148
NM_000130.5(F5):c.5054C>G (p.Thr1685Ser) rs6011 0.00144
NM_000130.5(F5):c.5245C>G (p.Leu1749Val) rs6034 0.00144
NM_000130.5(F5):c.2222A>G (p.Asn741Ser) rs144979314 0.00140
NM_000130.5(F5):c.5265A>G (p.Ile1755Met) rs41272455 0.00113
NM_000130.5(F5):c.2835G>A (p.Gly945=) rs370927080 0.00026
NM_000130.5(F5):c.2868T>C (p.Tyr956=) rs149067268 0.00025
NM_000130.5(F5):c.4641T>C (p.Asp1547=) rs138504020 0.00016
NM_000130.5(F5):c.1374A>G (p.Glu458=) rs150708584 0.00010
NM_000130.5(F5):c.1106C>T (p.Ala369Val) rs200934105 0.00006
NM_000130.5(F5):c.910G>A (p.Gly304Arg) rs747353298 0.00001
NM_000130.5(F5):c.1265T>C (p.Ile422Thr) rs2101827179
NM_000130.5(F5):c.1322G>A (p.Arg441His)
NM_000130.5(F5):c.251-6del
NM_000130.5(F5):c.2539A>G (p.Ile847Val)
NM_000130.5(F5):c.2563G>A (p.Gly855Arg)
NM_000130.5(F5):c.3065A>C (p.Lys1022Thr)
NM_000130.5(F5):c.3220A>G (p.Asn1074Asp)
NM_000130.5(F5):c.3335G>C (p.Ser1112Thr)
NM_000130.5(F5):c.4647dup (p.Tyr1550fs)
NM_000130.5(F5):c.510C>T (p.His170=)
NM_000130.5(F5):c.6230T>C (p.Ile2077Thr) rs2101803535
NM_000130.5(F5):c.6404C>T (p.Ala2135Val)
NM_000130.5(F5):c.6530T>A (p.Ile2177Asn) rs2101801070

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