ClinVar Miner

List of variants in gene EPS8L2 reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_022772.4(EPS8L2):c.1412C>T (p.Pro471Leu) rs60889456 0.03637
NM_022772.4(EPS8L2):c.59G>A (p.Arg20Gln) rs12283031 0.03157
NM_022772.4(EPS8L2):c.80T>C (p.Met27Thr) rs143833069 0.00019
NM_022772.4(EPS8L2):c.793G>A (p.Asp265Asn) rs775248143 0.00005
NM_022772.4(EPS8L2):c.1413G>A (p.Pro471=) rs369906914

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