ClinVar Miner

List of variants reported as benign for Erythrocytosis, familial, 3

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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_022051.2(EGLN1):c.-2586T>C rs2153364 0.18403
NM_022051.2(EGLN1):c.-1592T>C rs12406290 0.18375
NM_022051.2(EGLN1):c.-2592T>G rs1361383 0.16943
NM_022051.2(EGLN1):c.-2599T>C rs1361384 0.16701
NM_022051.2(EGLN1):c.-2923C>T rs1339894 0.16688
NM_022051.3(EGLN1):c.380G>C (p.Cys127Ser) rs12097901 0.15191
NM_022051.2(EGLN1):c.-1706T>C rs7544596 0.12544
NM_022051.3(EGLN1):c.*1880A>T rs13239 0.03362
NM_022051.3(EGLN1):c.*989T>C rs7550833 0.03358
NM_022051.2(EGLN1):c.-2448A>C rs114449367 0.02248
NM_022051.2(EGLN1):c.-544C>T rs188879504 0.02224
NM_022051.2(EGLN1):c.-536C>T rs184124593 0.02173
NM_022051.3(EGLN1):c.471G>C (p.Gln157His) rs61750991 0.01830
NM_022051.3(EGLN1):c.*2061C>G rs116262857 0.01601
NM_022051.2(EGLN1):c.-698G>A rs80010432 0.01338
NM_022051.2(EGLN1):c.-619C>G rs114235192 0.01283
NM_022051.3(EGLN1):c.*1919T>C rs41303095 0.01276
NM_022051.3(EGLN1):c.*2235C>G rs191867 0.01199
NM_022051.2(EGLN1):c.-420C>G rs533281866 0.00989
NM_022051.2(EGLN1):c.-2735G>A rs12094665 0.00522
NM_022051.3(EGLN1):c.*2096T>C rs141735901 0.00396
NM_022051.2(EGLN1):c.-2709C>T rs373140957 0.00292
NM_022051.3(EGLN1):c.*452A>G rs186972462 0.00277
NM_022051.2(EGLN1):c.-2369C>T rs149120358 0.00268
NM_022051.2(EGLN1):c.-2345G>C rs145066596 0.00239
NM_022051.2(EGLN1):c.-2696G>A rs147783454 0.00238
NM_022051.3(EGLN1):c.287C>T (p.Ala96Val) rs113401862 0.00236
NM_022051.3(EGLN1):c.1113C>T (p.Arg371=) rs143991968 0.00206
NM_022051.3(EGLN1):c.*2598G>A rs77496832 0.00195
NM_022051.3(EGLN1):c.1272C>T (p.Asp424=) rs61734647 0.00188
NM_022051.2(EGLN1):c.-1212A>G rs41310557 0.00183
NM_022051.2(EGLN1):c.-2419G>C rs188721782 0.00173
NM_022051.3(EGLN1):c.*622A>G rs183632912 0.00152
NM_022051.2(EGLN1):c.-1609G>A rs41303113 0.00149
NM_022051.2(EGLN1):c.-2203T>C rs184200552 0.00091
NM_022051.2(EGLN1):c.-2456A>G rs541100189 0.00084
NM_022051.3(EGLN1):c.*1199A>G rs185930120 0.00080
NM_022051.3(EGLN1):c.12C>G (p.Asp4Glu) rs186996510 0.00079
NM_022051.3(EGLN1):c.891+17G>C rs200793131 0.00076
NM_022051.3(EGLN1):c.*1288C>T rs578226800 0.00061
NM_022051.3(EGLN1):c.1259C>T (p.Ser420Leu) rs147839743 0.00049
NM_022051.2(EGLN1):c.-786G>A rs190966487 0.00038
NM_022051.3(EGLN1):c.120C>T (p.Phe40=) rs555121182 0.00029
NM_022051.3(EGLN1):c.558G>C (p.Lys186Asn) rs201365992 0.00018
NM_022051.3(EGLN1):c.*575A>T rs373743992 0.00016
NM_022051.3(EGLN1):c.354C>T (p.Ala118=) rs1370030808 0.00016
NM_022051.3(EGLN1):c.843C>T (p.Arg281=) rs143108243 0.00009
NM_022051.3(EGLN1):c.1011+7A>G rs199507950 0.00003
NM_022051.3(EGLN1):c.832G>A (p.Asp278Asn) rs371536347 0.00003
NM_022051.3(EGLN1):c.1216+7G>A rs541795999 0.00001
NM_022051.3(EGLN1):c.477G>A (p.Lys159=) rs766985056 0.00001
NM_022051.2(EGLN1):c.-2450T>G rs143021749
NM_022051.2(EGLN1):c.-531A>C rs113172460
NM_022051.2(EGLN1):c.-531A>G rs113172460
NM_022051.3(EGLN1):c.-379A>C rs533584823
NM_022051.3(EGLN1):c.-379A>T rs533584823
NM_022051.3(EGLN1):c.1011+15T>C
NM_022051.3(EGLN1):c.318C>T (p.Asp106=)

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