ClinVar Miner

List of variants in gene EPG5 studied for not specified

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Gene type:
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_020964.3(EPG5):c.7443-86T>G rs514001 0.79647
NM_020964.3(EPG5):c.6621+29A>G rs3826633 0.79509
NM_020964.3(EPG5):c.7227-123G>A rs567801 0.77840
NM_020964.3(EPG5):c.3173T>C (p.Val1058Ala) rs3744998 0.46686
NM_020964.3(EPG5):c.3098+117C>A rs1075906 0.46222
NM_020964.3(EPG5):c.1793-35C>T rs3745000 0.30094
NM_020964.3(EPG5):c.4532C>T (p.Ala1511Val) rs1893523 0.25513
NM_020964.3(EPG5):c.4646+35T>C rs3826634 0.21003
NM_020964.3(EPG5):c.4089C>T (p.His1363=) rs3744996 0.20554
NM_020964.3(EPG5):c.2553+35C>T rs9965433 0.19161
NM_020964.3(EPG5):c.2413-70T>C rs73953914 0.15787
NM_020964.3(EPG5):c.544A>G (p.Lys182Glu) rs59422275 0.11994
NM_020964.3(EPG5):c.7558-11G>A rs57761448 0.10601
NM_020964.3(EPG5):c.3248C>T (p.Ser1083Leu) rs78339727 0.02107
NM_020964.3(EPG5):c.4039A>C (p.Asn1347His) rs144860976 0.00405
NM_020964.3(EPG5):c.2063T>C (p.Phe688Ser) rs61978576 0.00295
NM_020964.3(EPG5):c.2998A>G (p.Met1000Val) rs144334723 0.00245
NM_020964.3(EPG5):c.800C>T (p.Ser267Leu) rs180913079 0.00113
NM_020964.3(EPG5):c.2100-7C>T rs191189597 0.00013
NM_020964.3(EPG5):c.6161C>T (p.Thr2054Met) rs200926094 0.00012
NM_020964.3(EPG5):c.3686C>A (p.Pro1229His) rs778094374 0.00001
NM_001410858.1(EPG5):c.7577T>C (p.Phe2526Ser)
NM_020964.3(EPG5):c.3980A>G (p.Tyr1327Cys) rs1410796384
NM_020964.3(EPG5):c.4072G>A (p.Glu1358Lys) rs775481546
NM_020964.3(EPG5):c.4329+36_4329+37del rs542412749
NM_020964.3(EPG5):c.63+15del rs11301517
NM_020964.3(EPG5):c.6622-7del rs11333207

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