ClinVar Miner

List of variants studied for Estrogen resistance syndrome

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NC_000006.12:g.151627231G>A rs2046210 0.41191
NM_025059.4(CCDC170):c.1810G>A (p.Val604Ile) rs6929137 0.35996
NC_000006.12:g.151630085A>G rs9397435 0.07592
NM_025059.4(CCDC170):c.*68A>C rs3734805 0.06939
NM_025059.4(CCDC170):c.*978A>G rs9383589 0.06624
NC_000006.12:g.151625494T>A rs12665607 0.06361
NM_000125.4(ESR1):c.*241T>A rs1562787582
NM_000125.4(ESR1):c.1091T>A (p.Val364Glu) rs121913044
NM_000125.4(ESR1):c.1125G>T (p.Gln375His) rs397509428
NM_000125.4(ESR1):c.1181G>A (p.Arg394His) rs1131692059
NM_000125.4(ESR1):c.469C>T (p.Arg157Ter) rs104893956
NM_004872.5(TMEM59):c.*23G>A rs776119905
NM_025059.4(CCDC170):c.1710+1144T>G rs12662670

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