ClinVar Miner

List of variants in gene EPG5 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_020964.3(EPG5):c.3279C>T (p.Ser1093=) rs72918350 0.00844
NM_020964.3(EPG5):c.6522G>A (p.Pro2174=) rs148683476 0.00708
NM_020964.3(EPG5):c.1399C>T (p.Leu467=) rs145998030 0.00707
NM_020964.3(EPG5):c.4039A>C (p.Asn1347His) rs144860976 0.00405
NM_020964.3(EPG5):c.5583C>T (p.Cys1861=) rs200372908 0.00399
NM_020964.3(EPG5):c.3965G>A (p.Arg1322His) rs148641800 0.00232
NM_020964.3(EPG5):c.5052G>A (p.Thr1684=) rs199648768 0.00065
NM_020964.3(EPG5):c.7165T>G (p.Leu2389Val) rs199602966 0.00053
NM_020964.3(EPG5):c.4791C>T (p.Ala1597=) rs368086133 0.00041
NM_020964.3(EPG5):c.708G>A (p.Leu236=) rs182077104 0.00012
NM_020964.3(EPG5):c.2964T>C (p.Cys988=) rs202213194 0.00007
NM_020964.3(EPG5):c.1857A>T (p.Ser619=) rs543352996 0.00005
NM_020964.3(EPG5):c.150T>G (p.Ser50=) rs368060363 0.00003
NM_020964.3(EPG5):c.7243G>A (p.Ala2415Thr) rs1274877697 0.00001
NM_020964.3(EPG5):c.1152T>C (p.Tyr384=)
NM_020964.3(EPG5):c.2844A>T (p.Ser948=)
NM_020964.3(EPG5):c.291G>C (p.Thr97=)
NM_020964.3(EPG5):c.291G>T (p.Thr97=) rs376360251
NM_020964.3(EPG5):c.3056T>C (p.Ile1019Thr)
NM_020964.3(EPG5):c.3607C>T (p.Arg1203Trp) rs764221778
NM_020964.3(EPG5):c.3917C>T (p.Pro1306Leu)
NM_020964.3(EPG5):c.3994G>A (p.Asp1332Asn)
NM_020964.3(EPG5):c.4527C>T (p.Pro1509=)
NM_020964.3(EPG5):c.5584G>A (p.Ala1862Thr) rs34977955

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