ClinVar Miner

List of variants in gene ECT2L reported by ITMI

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001077706.3(ECT2L):c.1579G>A (p.Glu527Lys) rs1529151 0.25392
NM_001077706.3(ECT2L):c.12C>A (p.Phe4Leu) rs79219465 0.01751
NM_001077706.3(ECT2L):c.1318T>G (p.Trp440Gly) rs79294486 0.01383
NM_001077706.3(ECT2L):c.649G>A (p.Val217Met) rs75478555 0.01346
NM_001077706.3(ECT2L):c.910A>G (p.Met304Val) rs75962473 0.01287
NM_001077706.3(ECT2L):c.437T>C (p.Ile146Thr) rs76700722 0.01264
NM_001077706.3(ECT2L):c.145G>A (p.Ala49Thr) rs146769748 0.00788
NM_001077706.3(ECT2L):c.1780G>A (p.Ala594Thr) rs11968285 0.00741
NM_001077706.3(ECT2L):c.1579-1G>C rs79069095 0.00689
NM_001077706.3(ECT2L):c.1709T>C (p.Val570Ala) rs138935097 0.00495
NM_001077706.3(ECT2L):c.2191C>T (p.His731Tyr) rs144150484 0.00412
NM_001077706.3(ECT2L):c.272C>T (p.Ser91Phe) rs116211453 0.00407
NM_001077706.3(ECT2L):c.2180C>T (p.Thr727Ile) rs199701983 0.00248
NM_001077706.3(ECT2L):c.1145C>A (p.Ala382Asp) rs149517821 0.00228
NM_001077706.3(ECT2L):c.1135A>T (p.Ser379Cys) rs139396585 0.00222
NM_001077706.3(ECT2L):c.839A>G (p.Asp280Gly) rs142505459 0.00164
NM_001077706.3(ECT2L):c.2227C>T (p.Gln743Ter) rs199963616 0.00103
NM_001077706.3(ECT2L):c.1532C>T (p.Ala511Val) rs202079003 0.00014
NM_001077706.3(ECT2L):c.2555G>A (p.Arg852Gln) rs371621945 0.00009
NM_001077706.3(ECT2L):c.1672A>C (p.Ile558Leu) rs375958674 0.00006
NM_001077706.3(ECT2L):c.2479C>T (p.Arg827Trp) rs539507764 0.00005
NM_001077706.3(ECT2L):c.1510A>G (p.Ile504Val) rs201270230 0.00003
NM_001077706.3(ECT2L):c.614G>A (p.Arg205Gln) rs587778245 0.00003
NM_001077706.3(ECT2L):c.1739A>G (p.Lys580Arg) rs587778240 0.00002
NM_001077706.3(ECT2L):c.1070-1G>C rs587777937 0.00001
NM_001077706.3(ECT2L):c.1802C>T (p.Ser601Leu) rs587778241 0.00001
NM_001077706.3(ECT2L):c.1051G>A (p.Glu351Lys) rs73557274
NM_001077706.3(ECT2L):c.1672_1674dup (p.Ile558dup) rs587778239
NM_001077706.3(ECT2L):c.2615G>A (p.Gly872Asp) rs374898524
NM_001077706.3(ECT2L):c.452A>G (p.His151Arg) rs587778243
NM_001077706.3(ECT2L):c.713A>C (p.Glu238Ala) rs587778244
NM_001077706.3(ECT2L):c.958_959inv (p.Val320Thr)

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