ClinVar Miner

List of variants in gene EPAS1 reported as likely benign for not provided

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Gene type:
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Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_001430.5(EPAS1):c.1035-15T>C rs116510029 0.02125
NM_001430.5(EPAS1):c.2046-56A>C rs141973439 0.01160
NM_001430.5(EPAS1):c.218-14_218-13insG rs781736017 0.00118
NM_001430.5(EPAS1):c.1104G>A (p.Met368Ile) rs61757375 0.00078
NM_001430.5(EPAS1):c.1834G>A (p.Gly612Arg) rs142445582 0.00068
NM_001430.5(EPAS1):c.146C>A (p.Ser49Tyr) rs149898744 0.00045
NM_001430.5(EPAS1):c.1077T>C (p.Thr359=) rs149190271 0.00030
NM_001430.5(EPAS1):c.886+12G>A rs369745324 0.00016
NM_001430.5(EPAS1):c.1380C>T (p.Pro460=) rs140679254 0.00014
NM_001430.5(EPAS1):c.948C>T (p.Tyr316=) rs774395818 0.00008
NM_001430.5(EPAS1):c.2367C>T (p.Ile789=) rs755579146 0.00007
NM_001430.5(EPAS1):c.1228G>A (p.Ala410Thr) rs539540390 0.00006
NM_001430.5(EPAS1):c.192G>T (p.Leu64=) rs750515166 0.00004
NM_001430.5(EPAS1):c.1248C>T (p.Phe416=) rs761886735 0.00003
NM_001430.5(EPAS1):c.1281T>C (p.Tyr427=) rs947956425 0.00002
NM_001430.5(EPAS1):c.1035-7C>A
NM_001430.5(EPAS1):c.1035-8C>G
NM_001430.5(EPAS1):c.1053C>T (p.Asp351=)
NM_001430.5(EPAS1):c.1101G>A (p.Leu367=)
NM_001430.5(EPAS1):c.1130G>A (p.Ser377Asn)
NM_001430.5(EPAS1):c.1218C>G (p.Thr406=) rs113741213
NM_001430.5(EPAS1):c.1227C>T (p.Asp409=)
NM_001430.5(EPAS1):c.1250-4A>T
NM_001430.5(EPAS1):c.1300C>T (p.Pro434Ser)
NM_001430.5(EPAS1):c.1302G>A (p.Pro434=)
NM_001430.5(EPAS1):c.1317C>T (p.Ala439=)
NM_001430.5(EPAS1):c.1320G>A (p.Thr440=)
NM_001430.5(EPAS1):c.1368C>G (p.Ala456=)
NM_001430.5(EPAS1):c.1395G>A (p.Pro465=)
NM_001430.5(EPAS1):c.1443+20C>T
NM_001430.5(EPAS1):c.1444-16C>A
NM_001430.5(EPAS1):c.1444-16C>G
NM_001430.5(EPAS1):c.1444-18C>T
NM_001430.5(EPAS1):c.1444-7C>T
NM_001430.5(EPAS1):c.1444-8G>T
NM_001430.5(EPAS1):c.1482C>T (p.Asn494=)
NM_001430.5(EPAS1):c.1488G>T (p.Leu496=)
NM_001430.5(EPAS1):c.1515C>T (p.Phe505=)
NM_001430.5(EPAS1):c.1551C>G (p.Thr517=)
NM_001430.5(EPAS1):c.1555-121C>T
NM_001430.5(EPAS1):c.1555-18G>T
NM_001430.5(EPAS1):c.1596T>C (p.Tyr532=)
NM_001430.5(EPAS1):c.1611G>A (p.Gly537=)
NM_001430.5(EPAS1):c.1680C>G (p.Pro560=)
NM_001430.5(EPAS1):c.1752C>G (p.Leu584=)
NM_001430.5(EPAS1):c.1797C>T (p.Pro599=)
NM_001430.5(EPAS1):c.1914G>A (p.Gln638=)
NM_001430.5(EPAS1):c.1963G>A (p.Gly655Arg)
NM_001430.5(EPAS1):c.1984T>C (p.Leu662=)
NM_001430.5(EPAS1):c.1998G>A (p.Pro666=)
NM_001430.5(EPAS1):c.2040G>A (p.Lys680=)
NM_001430.5(EPAS1):c.2045+20C>T
NM_001430.5(EPAS1):c.2046-5G>C
NM_001430.5(EPAS1):c.2079C>T (p.Asp693=)
NM_001430.5(EPAS1):c.2118G>A (p.Leu706=)
NM_001430.5(EPAS1):c.2139G>C (p.Glu713Asp)
NM_001430.5(EPAS1):c.217+11C>G
NM_001430.5(EPAS1):c.2173-20T>C
NM_001430.5(EPAS1):c.218-10C>A rs55792993
NM_001430.5(EPAS1):c.218-11C>G rs75591953
NM_001430.5(EPAS1):c.218-12C>A rs202210836
NM_001430.5(EPAS1):c.218-8dup
NM_001430.5(EPAS1):c.218-9_218-8insGCTCT
NM_001430.5(EPAS1):c.2246C>A (p.Pro749His)
NM_001430.5(EPAS1):c.2287+10G>A
NM_001430.5(EPAS1):c.2287+8G>A
NM_001430.5(EPAS1):c.2288-20C>G
NM_001430.5(EPAS1):c.2288-9G>T
NM_001430.5(EPAS1):c.2331G>C (p.Leu777=)
NM_001430.5(EPAS1):c.2403A>C (p.Pro801=)
NM_001430.5(EPAS1):c.2418C>T (p.Thr806=)
NM_001430.5(EPAS1):c.2427G>C (p.Gln809His)
NM_001430.5(EPAS1):c.2478G>C (p.Leu826=)
NM_001430.5(EPAS1):c.2481C>T (p.Leu827=)
NM_001430.5(EPAS1):c.2562C>T (p.Ser854=)
NM_001430.5(EPAS1):c.2592A>G (p.Arg864=)
NM_001430.5(EPAS1):c.2595C>A (p.Ala865=)
NM_001430.5(EPAS1):c.35C>T (p.Ser12Leu)
NM_001430.5(EPAS1):c.414C>T (p.Cys138=)
NM_001430.5(EPAS1):c.813G>A (p.Glu271=)
NM_001430.5(EPAS1):c.818T>G (p.Leu273Arg)
NM_001430.5(EPAS1):c.849G>A (p.Ala283=)
NM_001430.5(EPAS1):c.887-10C>T
NM_001430.5(EPAS1):c.93G>A (p.Thr31=)
NM_001430.5(EPAS1):c.972G>A (p.Thr324=)
NM_001430.5(EPAS1):c.978C>T (p.Ile326=)

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