ClinVar Miner

Variants in gene ELP1 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 26
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HGVS dbSNP gnomAD frequency
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=) rs61749202 0.01463
NM_003640.5(ELP1):c.1886G>A (p.Arg629His) rs148378319 0.00203
NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly) rs149685738 0.00084
NM_003640.5(ELP1):c.203G>T (p.Ser68Ile) rs143723093 0.00084
NM_003640.5(ELP1):c.3869A>G (p.Asn1290Ser) rs145319352 0.00083
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.948G>A (p.Pro316=) rs148917889 0.00043
NM_003640.5(ELP1):c.1911T>C (p.Val637=) rs369645371 0.00038
NM_003640.5(ELP1):c.2217A>G (p.Lys739=) rs139583037 0.00038
NM_003640.5(ELP1):c.2436C>T (p.Asp812=) rs113967847 0.00036
NM_003640.5(ELP1):c.3701-6C>G rs148535504 0.00025
NM_003640.5(ELP1):c.1878C>T (p.Asp626=) rs141596257 0.00021
NM_003640.5(ELP1):c.208C>T (p.Arg70Cys) rs3737311 0.00014
NM_003640.5(ELP1):c.1704A>G (p.Ser568=) rs138192941 0.00011
NM_003640.5(ELP1):c.2769A>G (p.Thr923=) rs370330097 0.00007
NM_003640.5(ELP1):c.2799G>A (p.Arg933=) rs367974002 0.00005
NM_003640.5(ELP1):c.2370A>G (p.Glu790=) rs772114554 0.00001
NM_003640.5(ELP1):c.2598C>T (p.Pro866=) rs773218149 0.00001
NM_003640.5(ELP1):c.3931+14C>G rs555520875 0.00001
NM_003640.5(ELP1):c.93G>T (p.Gly31=) rs778404648 0.00001
NM_003640.5(ELP1):c.959-8C>T rs766511916 0.00001
NM_003640.5(ELP1):c.1189+20G>A rs999307275
NM_003640.5(ELP1):c.169T>C (p.Leu57=) rs886063349
NM_003640.5(ELP1):c.1957T>C (p.Leu653=) rs542412132
NM_003640.5(ELP1):c.3441A>G (p.Gln1147=) rs779796058

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