ClinVar Miner

List of variants in gene ELP1 reported as benign by Invitae

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_003640.5(ELP1):c.2446A>C (p.Ile816Leu) rs2230793 0.27106
NM_003640.5(ELP1):c.2294G>A (p.Gly765Glu) rs2230792 0.26279
NM_003640.5(ELP1):c.3214T>A (p.Cys1072Ser) rs3204145 0.21876
NM_003640.5(ELP1):c.3473C>T (p.Pro1158Leu) rs1538660 0.21853
NM_003640.5(ELP1):c.3285+9C>T rs2275495 0.18606
NM_003640.5(ELP1):c.741-15dup rs398102543 0.11790
NM_003640.5(ELP1):c.1926G>A (p.Thr642=) rs10979605 0.09707
NM_003640.5(ELP1):c.1965C>T (p.Thr655=) rs2230791 0.09637
NM_003640.5(ELP1):c.441G>A (p.Gln147=) rs2230788 0.07986
NM_003640.5(ELP1):c.1574G>A (p.Arg525Gln) rs838827 0.07294
NM_003640.5(ELP1):c.545T>A (p.Met182Lys) rs10521092 0.06528
NM_003640.5(ELP1):c.2490A>G (p.Ile830Met) rs2230794 0.05069
NM_003640.5(ELP1):c.819C>T (p.Leu273=) rs12340246 0.04943
NM_003640.5(ELP1):c.3037G>A (p.Gly1013Ser) rs2230795 0.03328
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys) rs1140064 0.02197
NM_003640.5(ELP1):c.959-15C>T rs112114410 0.01906
NM_003640.5(ELP1):c.189C>T (p.Leu63=) rs2230786 0.01873
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly) rs17853166 0.01640
NM_003640.5(ELP1):c.2587+14C>T rs141670242 0.01614
NM_003640.5(ELP1):c.2855A>T (p.Lys952Ile) rs2230798 0.01592
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=) rs61749202 0.01463
NM_003640.5(ELP1):c.3492C>T (p.Asp1164=) rs79596285 0.01448
NM_003640.5(ELP1):c.1758T>G (p.Pro586=) rs35054425 0.00792
NM_003640.5(ELP1):c.2631C>T (p.Ala877=) rs138023874 0.00791
NM_003640.5(ELP1):c.1230G>A (p.Pro410=) rs41278359 0.00732
NM_003640.5(ELP1):c.1721C>T (p.Ala574Val) rs35455790 0.00524
NM_003640.5(ELP1):c.286A>G (p.Ser96Gly) rs35942802 0.00277
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn) rs10979599 0.00218
NM_003640.5(ELP1):c.2204+18G>C rs115641835 0.00213
NM_003640.5(ELP1):c.1143G>A (p.Val381=) rs35936107 0.00210
NM_003640.5(ELP1):c.3280A>G (p.Arg1094Gly) rs146440397 0.00098
NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp) rs139703788 0.00076
NM_003640.5(ELP1):c.3347-15A>G rs200154542 0.00073
NM_003640.5(ELP1):c.2284-18T>C rs768635920 0.00032
NM_003640.5(ELP1):c.3222+14C>T rs374787755 0.00013
NM_003640.5(ELP1):c.2799G>A (p.Arg933=) rs367974002 0.00005
NM_003640.5(ELP1):c.2026G>A (p.Gly676Ser) rs537930129 0.00004
NM_003640.5(ELP1):c.1017C>A (p.Ser339Arg) rs56053149 0.00003
NM_003640.5(ELP1):c.3855+18C>T rs557015443 0.00001
NM_003640.5(ELP1):c.1643+14dup
NM_003640.5(ELP1):c.1644-15_1644-13del rs753571092
NM_003640.5(ELP1):c.1957T>C (p.Leu653=) rs542412132
NM_003640.5(ELP1):c.209G>A (p.Arg70His) rs111936933
NM_003640.5(ELP1):c.2737-16_2737-14del
NM_003640.5(ELP1):c.2737-9dup rs2131975511
NM_003640.5(ELP1):c.3069G>C (p.Leu1023=) rs1063110
NM_003640.5(ELP1):c.3855+9T>G rs533673443

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