ClinVar Miner

List of variants in gene EDNRB reported by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001122659.3(EDNRB):c.831A>G (p.Leu277=) rs5351 0.58046
NM_001122659.3(EDNRB):c.561C>T (p.Ile187=) rs5349 0.01149
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352 0.01109
NM_001122659.3(EDNRB):c.49C>T (p.Leu17Phe) rs5346 0.00500
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710 0.00475
NM_001122659.3(EDNRB):c.731C>T (p.Thr244Met) rs5350 0.00348
NM_001122659.3(EDNRB):c.1239C>G (p.Ser413=) rs139317762 0.00203
NM_001122659.3(EDNRB):c.732G>A (p.Thr244=) rs186620070 0.00014
NM_001122659.3(EDNRB):c.99T>C (p.Pro33=) rs1050929 0.00004
NM_001122659.3(EDNRB):c.186G>A (p.Leu62=) rs62637639 0.00001
NM_001122659.3(EDNRB):c.1138T>C (p.Cys380Arg)
NM_001122659.3(EDNRB):c.1143dup (p.Asn382Ter)
NM_001122659.3(EDNRB):c.1170C>G (p.Ser390Arg)
NM_001122659.3(EDNRB):c.1301G>A (p.Arg434His)
NM_001122659.3(EDNRB):c.742A>T (p.Lys248Ter)
NM_001122659.3(EDNRB):c.801+2T>A

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