ClinVar Miner

List of variants in gene COBL studied for not specified

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Gene type:
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Total variants: 135
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HGVS dbSNP gnomAD frequency
NM_015198.5(COBL):c.1558G>C (p.Gly520Arg) rs142839981 0.00030
NM_015198.5(COBL):c.2375C>T (p.Pro792Leu) rs150697717 0.00028
NM_015198.5(COBL):c.877G>A (p.Val293Met) rs148755592 0.00025
NM_015198.5(COBL):c.1273A>G (p.Ser425Gly) rs141681360 0.00023
NM_015198.5(COBL):c.3400G>A (p.Gly1134Arg) rs777875725 0.00017
NM_015198.5(COBL):c.1958G>A (p.Gly653Asp) rs200168451 0.00011
NM_015198.5(COBL):c.889A>G (p.Met297Val) rs375366223 0.00011
NM_015198.5(COBL):c.1126T>G (p.Cys376Gly) rs376898542 0.00009
NM_015198.5(COBL):c.1468C>T (p.Arg490Cys) rs267601540 0.00008
NM_015198.5(COBL):c.146A>G (p.Gln49Arg) rs201325705 0.00008
NM_015198.5(COBL):c.2203G>A (p.Glu735Lys) rs559191037 0.00008
NM_015198.5(COBL):c.1969G>A (p.Gly657Arg) rs747554593 0.00007
NM_015198.5(COBL):c.1568A>G (p.Asn523Ser) rs370469180 0.00005
NM_015198.5(COBL):c.1828G>A (p.Gly610Arg) rs756820770 0.00005
NM_015198.5(COBL):c.2230G>A (p.Ala744Thr) rs753468538 0.00005
NM_015198.5(COBL):c.3205A>G (p.Lys1069Glu) rs117542691 0.00005
NM_015198.5(COBL):c.394G>A (p.Val132Met) rs201281315 0.00005
NM_015198.5(COBL):c.443C>T (p.Pro148Leu) rs750222809 0.00005
NM_015198.5(COBL):c.884C>T (p.Ser295Leu) rs201215118 0.00004
NM_015198.5(COBL):c.1001G>A (p.Arg334Gln) rs200241375 0.00003
NM_015198.5(COBL):c.1027C>T (p.Pro343Ser) rs1353157716 0.00003
NM_015198.5(COBL):c.20C>T (p.Ser7Leu) rs1399697954 0.00003
NM_015198.5(COBL):c.2517G>A (p.Met839Ile) rs759814093 0.00003
NM_015198.5(COBL):c.2530G>A (p.Val844Met) rs370189979 0.00003
NM_015198.5(COBL):c.2956C>T (p.Arg986Cys) rs145802420 0.00003
NM_015198.5(COBL):c.3095G>A (p.Cys1032Tyr) rs780099196 0.00003
NM_015198.5(COBL):c.3598C>T (p.Leu1200Phe) rs201787564 0.00003
NM_015198.5(COBL):c.950C>T (p.Ser317Leu) rs192731501 0.00003
NM_015198.5(COBL):c.2132T>C (p.Ile711Thr) rs756282124 0.00002
NM_015198.5(COBL):c.251C>T (p.Ala84Val) rs149682754 0.00002
NM_015198.5(COBL):c.2776A>G (p.Lys926Glu) rs1263800981 0.00002
NM_015198.5(COBL):c.3074A>C (p.His1025Pro) rs747950142 0.00002
NM_015198.5(COBL):c.3505G>T (p.Val1169Leu) rs528601904 0.00002
NM_015198.5(COBL):c.898C>T (p.Arg300Cys) rs372443929 0.00002
NM_015198.5(COBL):c.11C>G (p.Pro4Arg) rs2547324653 0.00001
NM_015198.5(COBL):c.1230G>A (p.Met410Ile) rs761742208 0.00001
NM_015198.5(COBL):c.1631T>C (p.Ile544Thr) rs765323342 0.00001
NM_015198.5(COBL):c.1817A>G (p.Asp606Gly) rs1223600522 0.00001
NM_015198.5(COBL):c.1996G>A (p.Val666Met) rs760398316 0.00001
NM_015198.5(COBL):c.2261C>T (p.Ser754Leu) rs149772928 0.00001
NM_015198.5(COBL):c.2276C>G (p.Ala759Gly) rs1024411818 0.00001
NM_015198.5(COBL):c.2330A>T (p.Glu777Val) rs755748486 0.00001
NM_015198.5(COBL):c.2684G>T (p.Gly895Val) rs774862992 0.00001
NM_015198.5(COBL):c.2705T>C (p.Val902Ala) rs920606707 0.00001
NM_015198.5(COBL):c.2978G>A (p.Cys993Tyr) rs139496262 0.00001
NM_015198.5(COBL):c.3056C>T (p.Thr1019Ile) rs749362981 0.00001
NM_015198.5(COBL):c.3139G>A (p.Gly1047Ser) rs746769073 0.00001
NM_015198.5(COBL):c.3433G>A (p.Glu1145Lys) rs1176992794 0.00001
NM_015198.5(COBL):c.3544G>A (p.Asp1182Asn) rs762209143 0.00001
NM_015198.5(COBL):c.3622C>T (p.Pro1208Ser) rs766033325 0.00001
NM_015198.5(COBL):c.40G>C (p.Gly14Arg) rs1803628753 0.00001
NM_015198.5(COBL):c.508C>T (p.Arg170Cys) rs771936587 0.00001
NM_015198.5(COBL):c.602A>G (p.Asn201Ser) rs762565296 0.00001
NM_015198.5(COBL):c.1057C>T (p.Arg353Cys)
NM_015198.5(COBL):c.1065G>C (p.Glu355Asp)
NM_015198.5(COBL):c.1135G>A (p.Asp379Asn)
NM_015198.5(COBL):c.121C>G (p.His41Asp) rs368613191
NM_015198.5(COBL):c.121C>T (p.His41Tyr) rs368613191
NM_015198.5(COBL):c.1364G>T (p.Ser455Ile)
NM_015198.5(COBL):c.1469G>A (p.Arg490His) rs201337619
NM_015198.5(COBL):c.1490A>G (p.Asp497Gly)
NM_015198.5(COBL):c.1549T>G (p.Ser517Ala) rs368473607
NM_015198.5(COBL):c.1565C>G (p.Ser522Cys)
NM_015198.5(COBL):c.158G>C (p.Arg53Pro)
NM_015198.5(COBL):c.1676A>G (p.Asn559Ser)
NM_015198.5(COBL):c.1706C>T (p.Ser569Leu) rs375644713
NM_015198.5(COBL):c.1710G>C (p.Glu570Asp)
NM_015198.5(COBL):c.1739C>T (p.Ala580Val)
NM_015198.5(COBL):c.1756C>T (p.His586Tyr) rs1787929165
NM_015198.5(COBL):c.1796C>T (p.Ala599Val)
NM_015198.5(COBL):c.187A>G (p.Met63Val) rs770355015
NM_015198.5(COBL):c.187A>T (p.Met63Leu) rs770355015
NM_015198.5(COBL):c.188T>C (p.Met63Thr)
NM_015198.5(COBL):c.1968C>G (p.Asp656Glu) rs202194588
NM_015198.5(COBL):c.2014A>G (p.Asn672Asp)
NM_015198.5(COBL):c.2032G>A (p.Asp678Asn)
NM_015198.5(COBL):c.2044G>C (p.Ala682Pro)
NM_015198.5(COBL):c.2072G>A (p.Arg691Gln)
NM_015198.5(COBL):c.212G>C (p.Ser71Thr) rs2547017254
NM_015198.5(COBL):c.2161G>C (p.Asp721His) rs141355954
NM_015198.5(COBL):c.2236G>A (p.Gly746Ser) rs367789677
NM_015198.5(COBL):c.2258C>G (p.Ser753Cys)
NM_015198.5(COBL):c.2321A>G (p.Asn774Ser)
NM_015198.5(COBL):c.2359T>C (p.Ser787Pro)
NM_015198.5(COBL):c.235C>T (p.Leu79Phe)
NM_015198.5(COBL):c.2378C>A (p.Ser793Tyr) rs747249558
NM_015198.5(COBL):c.2393C>G (p.Thr798Arg) rs199755175
NM_015198.5(COBL):c.2417G>C (p.Arg806Thr)
NM_015198.5(COBL):c.2535G>T (p.Arg845Ser) rs770787924
NM_015198.5(COBL):c.2561T>A (p.Val854Asp)
NM_015198.5(COBL):c.2597A>G (p.Gln866Arg)
NM_015198.5(COBL):c.2623C>T (p.Arg875Cys)
NM_015198.5(COBL):c.2699C>T (p.Ala900Val) rs372266870
NM_015198.5(COBL):c.275T>C (p.Leu92Pro)
NM_015198.5(COBL):c.2804C>T (p.Thr935Ile) rs1326661635
NM_015198.5(COBL):c.2853G>C (p.Arg951Ser) rs144492946
NM_015198.5(COBL):c.2853G>T (p.Arg951Ser) rs144492946
NM_015198.5(COBL):c.2855G>T (p.Gly952Val) rs779149777
NM_015198.5(COBL):c.2888C>T (p.Thr963Ile) rs777430797
NM_015198.5(COBL):c.2957G>A (p.Arg986His) rs368670111
NM_015198.5(COBL):c.2957G>T (p.Arg986Leu) rs368670111
NM_015198.5(COBL):c.3014A>C (p.Glu1005Ala)
NM_015198.5(COBL):c.3041G>A (p.Arg1014His) rs200478913
NM_015198.5(COBL):c.3049G>C (p.Asp1017His)
NM_015198.5(COBL):c.3067C>G (p.Pro1023Ala) rs773343530
NM_015198.5(COBL):c.3103G>A (p.Glu1035Lys) rs2540600873
NM_015198.5(COBL):c.3118T>G (p.Ser1040Ala) rs547420267
NM_015198.5(COBL):c.3199G>C (p.Glu1067Gln) rs766864509
NM_015198.5(COBL):c.3211A>G (p.Ser1071Gly)
NM_015198.5(COBL):c.3214G>A (p.Val1072Met)
NM_015198.5(COBL):c.323G>A (p.Arg108Gln)
NM_015198.5(COBL):c.3272C>T (p.Pro1091Leu)
NM_015198.5(COBL):c.3316G>C (p.Asp1106His)
NM_015198.5(COBL):c.3320C>G (p.Thr1107Arg)
NM_015198.5(COBL):c.3373A>G (p.Arg1125Gly)
NM_015198.5(COBL):c.3388G>T (p.Ala1130Ser) rs768179389
NM_015198.5(COBL):c.3445G>A (p.Glu1149Lys)
NM_015198.5(COBL):c.3483C>A (p.Ser1161Arg)
NM_015198.5(COBL):c.3523G>C (p.Glu1175Gln)
NM_015198.5(COBL):c.3550G>A (p.Ala1184Thr) rs139118175
NM_015198.5(COBL):c.3628C>T (p.Pro1210Ser) rs1489059425
NM_015198.5(COBL):c.3703G>A (p.Ala1235Thr)
NM_015198.5(COBL):c.3709G>A (p.Ala1237Thr) rs374766330
NM_015198.5(COBL):c.372T>G (p.Ile124Met) rs1476984167
NM_015198.5(COBL):c.3742G>A (p.Gly1248Ser)
NM_015198.5(COBL):c.376A>G (p.Thr126Ala) rs1790309236
NM_015198.5(COBL):c.385G>A (p.Val129Met) rs2546941995
NM_015198.5(COBL):c.573C>A (p.Ser191Arg)
NM_015198.5(COBL):c.676A>G (p.Asn226Asp)
NM_015198.5(COBL):c.779G>A (p.Ser260Asn) rs1275939462
NM_015198.5(COBL):c.784G>A (p.Gly262Ser)
NM_015198.5(COBL):c.811T>C (p.Ser271Pro) rs142332711
NM_015198.5(COBL):c.823C>T (p.Arg275Cys)
NM_015198.5(COBL):c.913C>A (p.Pro305Thr)
NM_015198.5(COBL):c.958-41_960del rs1794112004

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