ClinVar Miner

List of variants in gene EDN3 reported as likely benign by Labcorp Genetics (formerly Invitae), Labcorp

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_207034.3(EDN3):c.670G>A (p.Ala224Thr) rs11570351 0.00156
NM_207034.3(EDN3):c.501G>A (p.Lys167=) rs143232619 0.00019
NM_207034.3(EDN3):c.225C>T (p.Ser75=) rs565731779 0.00010
NM_207034.3(EDN3):c.48C>T (p.Ala16=) rs550205592 0.00007
NM_207034.3(EDN3):c.589-10C>T rs199781865 0.00005
NM_207034.3(EDN3):c.372G>A (p.Thr124=) rs781011983 0.00004
NM_207034.3(EDN3):c.542+12C>T rs377641145 0.00003
NM_207034.3(EDN3):c.222A>C (p.Pro74=) rs781103592 0.00001
NM_207034.3(EDN3):c.234C>T (p.Ser78=) rs757170661 0.00001
NM_207034.3(EDN3):c.366-15C>T rs1419833783 0.00001
NM_207034.3(EDN3):c.375G>A (p.Val125=) rs958504640 0.00001
NM_207034.3(EDN3):c.555G>A (p.Thr185=) rs770991287 0.00001
NM_207034.3(EDN3):c.603C>T (p.Asp201=) rs758459588 0.00001
NM_207034.3(EDN3):c.143AGACTGTGGCTGGCCCTGGCGAGG[1] (p.48ETVAGPGE[1]) rs749390209
NM_207034.3(EDN3):c.183T>C (p.Pro61=)
NM_207034.3(EDN3):c.252G>A (p.Ala84=)
NM_207034.3(EDN3):c.306C>T (p.Tyr102=) rs768226122
NM_207034.3(EDN3):c.414C>T (p.Gly138=)
NM_207034.3(EDN3):c.486G>A (p.Val162=)
NM_207034.3(EDN3):c.507C>T (p.Cys169=)
NM_207034.3(EDN3):c.52+7G>T rs565272361
NM_207034.3(EDN3):c.565dup (p.Thr189fs) rs11570344
NM_207034.3(EDN3):c.589-6A>T

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