ClinVar Miner

List of variants in gene EFL1 reported as benign for not provided

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_024580.6(EFL1):c.2358T>C (p.Gly786=) rs905450 0.81375
NM_024580.6(EFL1):c.2990-36T>C rs2457497 0.81008
NM_024580.6(EFL1):c.731+18T>C rs1972460 0.40011
NM_024580.6(EFL1):c.1849A>G (p.Ile617Val) rs1128431 0.14560
NM_024580.6(EFL1):c.2132A>G (p.Lys711Arg) rs2292071 0.13997
NM_024580.6(EFL1):c.2971G>A (p.Ala991Thr) rs78664413 0.07087
NM_024580.6(EFL1):c.303A>C (p.Ser101=) rs11548681 0.04186
NM_024580.6(EFL1):c.1486C>T (p.Leu496Phe) rs116871238 0.01491
NM_024580.6(EFL1):c.247A>G (p.Asn83Asp) rs140669013 0.01217
NM_024580.6(EFL1):c.593T>C (p.Val198Ala) rs200327900 0.01205
NM_024580.6(EFL1):c.2641C>A (p.Pro881Thr) rs72749532 0.00962
NM_024580.6(EFL1):c.3028G>A (p.Val1010Ile) rs72749527 0.00721
NM_024580.6(EFL1):c.2268G>T (p.Met756Ile) rs115974511 0.00709
NM_024580.6(EFL1):c.1267A>G (p.Lys423Glu) rs151013771 0.00708
NM_024580.6(EFL1):c.1193-9T>C rs140866837 0.00429
NM_024580.6(EFL1):c.2342C>T (p.Ser781Phe) rs115354615 0.00243
NM_024580.6(EFL1):c.1026C>T (p.Asn342=) rs192835644 0.00192
NM_024580.6(EFL1):c.1449C>T (p.Asp483=) rs193170502 0.00163
NM_024580.6(EFL1):c.306A>C (p.Glu102Asp) rs201851277 0.00151
NM_024580.6(EFL1):c.270G>C (p.Leu90=) rs187290995 0.00074
NM_024580.6(EFL1):c.2030+20G>A rs202018584 0.00047
NM_024580.6(EFL1):c.1751-16T>G rs567086971 0.00024
NM_024580.6(EFL1):c.1070-7A>G rs201035161 0.00019
NM_024580.6(EFL1):c.178A>G (p.Arg60Gly) rs199659645 0.00019
NM_024580.6(EFL1):c.315C>T (p.Thr105=) rs201679284 0.00014
NM_024580.6(EFL1):c.1836C>T (p.Phe612=) rs377357859 0.00010
NM_024580.6(EFL1):c.1962G>A (p.Thr654=) rs369620042 0.00009
NM_024580.6(EFL1):c.795A>T (p.Lys265Asn) rs377206914 0.00002
NM_024580.6(EFL1):c.1434G>C (p.Glu478Asp) rs2292189
NM_024580.6(EFL1):c.1883-11del
NM_024580.6(EFL1):c.2856C>T (p.Asp952=) rs4725

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