ClinVar Miner

List of variants in gene CYB5R3 studied for not provided

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Gene type:
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Total variants: 175
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HGVS dbSNP gnomAD frequency
NM_000398.7(CYB5R3):c.334-123G>A rs137139 0.67270
NM_000398.7(CYB5R3):c.21+4462G>A rs5751319 0.64991
NM_000398.7(CYB5R3):c.21+4508C>T rs763063 0.62751
NM_000398.7(CYB5R3):c.21+5219T>C rs734637 0.61875
NM_000398.7(CYB5R3):c.333+96T>C rs5758820 0.60871
NC_000022.11:g.42649701G>T rs5996205 0.60297
NM_000398.7(CYB5R3):c.21+4380G>A rs1109585 0.46647
NM_000398.7(CYB5R3):c.333+272G>A rs2285138 0.45722
NM_000398.7(CYB5R3):c.463+178C>T rs137138 0.42831
NM_000398.7(CYB5R3):c.*63A>G rs137124 0.37177
NM_000398.7(CYB5R3):c.733+233A>G rs2071844 0.36906
NM_000398.7(CYB5R3):c.*287C>A rs137123 0.34239
NM_000398.7(CYB5R3):c.634-275G>A rs137128 0.32209
NM_000398.7(CYB5R3):c.333+198C>T rs2285139 0.31122
NM_000398.7(CYB5R3):c.226+28C>T rs743889 0.30850
NM_000398.7(CYB5R3):c.153+233C>G rs8190416 0.16294
NM_000398.7(CYB5R3):c.733+163G>T rs137127 0.15569
NM_000398.7(CYB5R3):c.21+4494G>A rs8190404 0.15211
NM_000398.7(CYB5R3):c.21+4428C>T rs2284088 0.15169
NM_000398.7(CYB5R3):c.154-174G>A rs2071847 0.14708
NC_000022.11:g.42649689G>A rs28365957 0.12989
NC_000022.11:g.42649637C>G rs28365958 0.12968
NM_000398.7(CYB5R3):c.132G>A (p.Pro44=) rs5996200 0.12874
NC_000022.11:g.42649531T>C rs8190366 0.12799
NM_000398.7(CYB5R3):c.547+76T>C rs137137 0.09209
NM_000398.7(CYB5R3):c.547+84C>T rs137136 0.09028
NM_000398.7(CYB5R3):c.350C>G (p.Thr117Ser) rs1800457 0.08114
NM_000398.7(CYB5R3):c.733+259T>C rs2071843 0.06322
NC_000022.11:g.42649507dup rs8190367 0.05951
NC_000022.11:g.42649566C>A rs73888347 0.02531
NM_000398.7(CYB5R3):c.634-273G>A rs8190458 0.02202
NM_000398.7(CYB5R3):c.21+4867C>G rs8190407 0.02131
NM_000398.7(CYB5R3):c.21+4998G>T rs8190409 0.02128
NM_000398.7(CYB5R3):c.21+4661G>A rs6002846 0.01779
NM_000398.7(CYB5R3):c.21+4827C>T rs8190406 0.00953
NM_000398.7(CYB5R3):c.297C>T (p.Ser99=) rs150701311 0.00856
NM_000398.7(CYB5R3):c.898G>A (p.Val300Ile) rs61743746 0.00802
NM_000398.7(CYB5R3):c.45A>G (p.Pro15=) rs111649710 0.00329
NM_000398.7(CYB5R3):c.432C>T (p.Gly144=) rs112669378 0.00315
NM_000398.7(CYB5R3):c.890G>A (p.Arg297His) rs76458556 0.00145
NM_000398.7(CYB5R3):c.463+13G>A rs150048774 0.00102
NM_000398.7(CYB5R3):c.637G>A (p.Glu213Lys) rs61745147 0.00083
NM_000398.7(CYB5R3):c.471C>T (p.Phe157=) rs149158903 0.00076
NM_000398.7(CYB5R3):c.558G>A (p.Pro186=) rs139534909 0.00049
NM_000398.7(CYB5R3):c.734-8C>T rs371034075 0.00038
NM_000398.7(CYB5R3):c.31A>G (p.Met11Val) rs147001900 0.00029
NM_000398.7(CYB5R3):c.537G>A (p.Ala179=) rs144871462 0.00016
NM_000398.7(CYB5R3):c.547+7G>A rs377300664 0.00012
NM_000398.7(CYB5R3):c.463+8G>A rs200872504 0.00011
NM_000398.7(CYB5R3):c.575G>A (p.Arg192His) rs200581263 0.00010
NM_000398.7(CYB5R3):c.316G>A (p.Val106Met) rs121965009 0.00006
NM_000398.7(CYB5R3):c.757G>A (p.Val253Met) rs144071404 0.00006
NM_000398.7(CYB5R3):c.903C>T (p.Phe301=) rs150607528 0.00006
NM_000398.7(CYB5R3):c.117G>A (p.Pro39=) rs141441782 0.00005
NM_000398.7(CYB5R3):c.137G>A (p.Arg46Gln) rs781605975 0.00005
NM_000398.7(CYB5R3):c.89C>T (p.Ser30Phe) rs147960720 0.00005
NM_000398.7(CYB5R3):c.464-2A>C rs794728013 0.00004
NM_000398.7(CYB5R3):c.478C>T (p.Arg160Ter) rs61732609 0.00004
NM_000398.7(CYB5R3):c.756C>T (p.Phe252=) rs759908671 0.00004
NM_000398.7(CYB5R3):c.120C>T (p.Asp40=) rs376757098 0.00003
NM_000398.7(CYB5R3):c.173G>A (p.Arg58Gln) rs121965007 0.00002
NM_000398.7(CYB5R3):c.352C>T (p.His118Tyr) rs772310694 0.00002
NM_000398.7(CYB5R3):c.875G>A (p.Gly292Asp) rs121965016 0.00002
NM_000398.7(CYB5R3):c.153+9C>T rs768931059 0.00001
NM_000398.7(CYB5R3):c.21+4910G>C rs1356643970 0.00001
NM_000398.7(CYB5R3):c.547+1G>A rs1161477501 0.00001
NM_000398.7(CYB5R3):c.574C>T (p.Arg192Cys) rs543277216 0.00001
NM_000398.7(CYB5R3):c.66G>A (p.Leu22=) rs749944418 0.00001
NM_000398.7(CYB5R3):c.706del (p.Trp236fs) rs1928115765 0.00001
NM_000398.7(CYB5R3):c.708G>A (p.Trp236Ter) rs763259379 0.00001
NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly) rs121965018 0.00001
NM_000398.7(CYB5R3):c.806C>T (p.Pro269Leu) rs754251915 0.00001
NM_000398.7(CYB5R3):c.884C>T (p.Thr295Met) rs768095972 0.00001
NC_000022.10:g.(?_43015779)_(43015971_?)del
NC_000022.10:g.(?_43015779)_(43024307_?)del
NC_000022.11:g.42649616del rs8190363
NM_000398.7(CYB5R3):c.116C>G (p.Pro39Arg)
NM_000398.7(CYB5R3):c.116C>T (p.Pro39Leu)
NM_000398.7(CYB5R3):c.117G>T (p.Pro39=) rs141441782
NM_000398.7(CYB5R3):c.131C>T (p.Pro44Leu)
NM_000398.7(CYB5R3):c.136C>A (p.Arg46=)
NM_000398.7(CYB5R3):c.136C>T (p.Arg46Trp)
NM_000398.7(CYB5R3):c.144C>T (p.Ile48=)
NM_000398.7(CYB5R3):c.145G>C (p.Asp49His) rs144467449
NM_000398.7(CYB5R3):c.149G>A (p.Arg50Gln)
NM_000398.7(CYB5R3):c.153+10G>A
NM_000398.7(CYB5R3):c.153+13C>T
NM_000398.7(CYB5R3):c.153+16C>T
NM_000398.7(CYB5R3):c.153+20G>A
NM_000398.7(CYB5R3):c.159C>T (p.Ile53=)
NM_000398.7(CYB5R3):c.171C>T (p.Thr57=) rs1601938622
NM_000398.7(CYB5R3):c.175C>T (p.Arg59Cys)
NM_000398.7(CYB5R3):c.176G>A (p.Arg59His)
NM_000398.7(CYB5R3):c.201C>G (p.Pro67=)
NM_000398.7(CYB5R3):c.21+4921G>C
NM_000398.7(CYB5R3):c.22-18C>A rs2285141
NM_000398.7(CYB5R3):c.22-20C>T
NM_000398.7(CYB5R3):c.22-7G>A
NM_000398.7(CYB5R3):c.22-8C>T
NM_000398.7(CYB5R3):c.226+9C>T
NM_000398.7(CYB5R3):c.227-14G>A
NM_000398.7(CYB5R3):c.229C>T (p.Gln77Ter) rs121965014
NM_000398.7(CYB5R3):c.243C>T (p.Leu81=)
NM_000398.7(CYB5R3):c.250C>T (p.Arg84Ter) rs1210302322
NM_000398.7(CYB5R3):c.254T>A (p.Ile85Asn)
NM_000398.7(CYB5R3):c.304G>A (p.Asp102Asn)
NM_000398.7(CYB5R3):c.334-13G>C
NM_000398.7(CYB5R3):c.334-15G>A
NM_000398.7(CYB5R3):c.334-16C>T
NM_000398.7(CYB5R3):c.351C>G (p.Thr117=) rs775484973
NM_000398.7(CYB5R3):c.351C>T (p.Thr117=)
NM_000398.7(CYB5R3):c.361T>C (p.Phe121Leu)
NM_000398.7(CYB5R3):c.366C>T (p.Pro122=)
NM_000398.7(CYB5R3):c.367G>A (p.Ala123Thr)
NM_000398.7(CYB5R3):c.378G>T (p.Lys126Asn)
NM_000398.7(CYB5R3):c.394G>C (p.Glu132Gln)
NM_000398.7(CYB5R3):c.403C>G (p.Gln135Glu)
NM_000398.7(CYB5R3):c.403C>T (p.Gln135Ter)
NM_000398.7(CYB5R3):c.408T>G (p.Ile136Met)
NM_000398.7(CYB5R3):c.433C>T (p.Pro145Ser)
NM_000398.7(CYB5R3):c.434C>T (p.Pro145Leu)
NM_000398.7(CYB5R3):c.435C>T (p.Pro145=)
NM_000398.7(CYB5R3):c.463+20C>G
NM_000398.7(CYB5R3):c.463+219C>A rs2071846
NM_000398.7(CYB5R3):c.463+7C>T
NM_000398.7(CYB5R3):c.463G>A (p.Gly155Arg) rs1928395634
NM_000398.7(CYB5R3):c.464-18C>G
NM_000398.7(CYB5R3):c.464-19A>G
NM_000398.7(CYB5R3):c.464-9T>C
NM_000398.7(CYB5R3):c.472G>A (p.Ala158Thr)
NM_000398.7(CYB5R3):c.479G>A (p.Arg160Gln)
NM_000398.7(CYB5R3):c.507C>G (p.Ile169Met)
NM_000398.7(CYB5R3):c.508A>G (p.Arg170Gly)
NM_000398.7(CYB5R3):c.527G>A (p.Gly176Asp)
NM_000398.7(CYB5R3):c.535G>A (p.Ala179Thr)
NM_000398.7(CYB5R3):c.535G>C (p.Ala179Pro) rs530251354
NM_000398.7(CYB5R3):c.547+12C>A
NM_000398.7(CYB5R3):c.547+15C>T
NM_000398.7(CYB5R3):c.547+18C>T
NM_000398.7(CYB5R3):c.548-12G>T
NM_000398.7(CYB5R3):c.548-13G>A rs573516374
NM_000398.7(CYB5R3):c.548-13G>C
NM_000398.7(CYB5R3):c.548-14C>T
NM_000398.7(CYB5R3):c.548-17G>A
NM_000398.7(CYB5R3):c.550A>G (p.Ile184Val)
NM_000398.7(CYB5R3):c.564G>A (p.Leu188=) rs149851138
NM_000398.7(CYB5R3):c.577G>A (p.Ala193Thr)
NM_000398.7(CYB5R3):c.587A>G (p.Lys196Arg)
NM_000398.7(CYB5R3):c.592C>A (p.Pro198Thr)
NM_000398.7(CYB5R3):c.599A>G (p.Asp200Gly)
NM_000398.7(CYB5R3):c.633+15C>T
NM_000398.7(CYB5R3):c.633+17A>G
NM_000398.7(CYB5R3):c.634-19C>T
NM_000398.7(CYB5R3):c.634-4G>A
NM_000398.7(CYB5R3):c.63T>A (p.Ser21Arg)
NM_000398.7(CYB5R3):c.69C>T (p.Leu23=)
NM_000398.7(CYB5R3):c.700A>G (p.Lys234Glu)
NM_000398.7(CYB5R3):c.726C>T (p.Ala242=) rs1222693225
NM_000398.7(CYB5R3):c.733+16C>G
NM_000398.7(CYB5R3):c.734-5C>T
NM_000398.7(CYB5R3):c.744C>T (p.Tyr248=)
NM_000398.7(CYB5R3):c.759G>A (p.Val253=)
NM_000398.7(CYB5R3):c.775C>T (p.Arg259Trp)
NM_000398.7(CYB5R3):c.776G>A (p.Arg259Gln)
NM_000398.7(CYB5R3):c.792C>G (p.Pro264=)
NM_000398.7(CYB5R3):c.805C>A (p.Pro269Thr)
NM_000398.7(CYB5R3):c.807G>A (p.Pro269=)
NM_000398.7(CYB5R3):c.819G>A (p.Met273Ile)
NM_000398.7(CYB5R3):c.830C>T (p.Pro277Leu)
NM_000398.7(CYB5R3):c.830dup (p.Pro278fs) rs750819571
NM_000398.7(CYB5R3):c.846C>T (p.Tyr282=)
NM_000398.7(CYB5R3):c.861C>G (p.Asn287Lys)
NM_000398.7(CYB5R3):c.870C>T (p.His290=)
NM_000398.7(CYB5R3):c.871G>A (p.Val291Met) rs773106001
NM_000398.7(CYB5R3):c.871_879del (p.Val291_His293del) rs2146859537

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