ClinVar Miner

List of variants in gene ECE1 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001397.3(ECE1):c.1164-5C>T rs12562197 0.21072
NM_001397.3(ECE1):c.1155C>T (p.Thr385=) rs2229450 0.19624
NM_001397.3(ECE1):c.1641T>C (p.Asp547=) rs2228321 0.14559
NM_001397.3(ECE1):c.1020+15G>A rs212522 0.09804
NM_001397.3(ECE1):c.1022C>T (p.Thr341Ile) rs1076669 0.05186
NM_001397.3(ECE1):c.1782-4C>A rs3026903 0.02834
NM_001397.3(ECE1):c.1278+7C>T rs28368004 0.02460
NM_001397.3(ECE1):c.1385G>A (p.Ser462Asn) rs141146885 0.00350
NM_001397.3(ECE1):c.517G>A (p.Glu173Lys) rs147475863 0.00086
NM_001397.3(ECE1):c.1546C>T (p.Leu516=) rs143819896 0.00016
NM_001397.3(ECE1):c.1060A>G (p.Thr354Ala)
NM_001397.3(ECE1):c.1671-21_1671-20delinsGG rs886038483
NM_001397.3(ECE1):c.1853G>A (p.Arg618Gln)
NM_001397.3(ECE1):c.2019G>T (p.Gly673=)

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