ClinVar Miner

List of variants in gene CP studied for anemia (disease)

Included ClinVar conditions (263):
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Gene type:
ClinVar version:
Total variants: 127
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HGVS dbSNP
NC_000003.11:g.(?_148923935)_(148924146_?)del
NC_000003.11:g.(?_148939414)_(148939599_?)del
NM_000096.3(CP):c.-165C>T rs536533840
NM_000096.3(CP):c.-183T>C rs185578646
NM_000096.3(CP):c.-199C>G rs772691705
NM_000096.3(CP):c.1209_1210dupTG (p.Asp404Valfs) rs386134138
NM_000096.3(CP):c.606dupA (p.Asp203Argfs) rs386134143
NM_000096.4(CP):c.1012T>A (p.Cys338Ser) rs769313989
NM_000096.4(CP):c.1037-3C>A
NM_000096.4(CP):c.1049C>A (p.Ala350Asp) rs386134127
NM_000096.4(CP):c.1099C>T (p.Arg367Cys) rs34624984
NM_000096.4(CP):c.1100G>T (p.Arg367Leu)
NM_000096.4(CP):c.1104G>C (p.Gly368=) rs142503847
NM_000096.4(CP):c.1123T>C (p.Tyr375His) rs386134128
NM_000096.4(CP):c.1191C>G (p.Asn397Lys) rs146229133
NM_000096.4(CP):c.1208+1G>A rs1553762556
NM_000096.4(CP):c.1209-15T>A rs35465173
NM_000096.4(CP):c.1209-2A>G rs386134137
NM_000096.4(CP):c.1217C>A (p.Ala406Glu) rs147034302
NM_000096.4(CP):c.1257_1258del (p.Ser419_Tyr420insTer) rs386134144
NM_000096.4(CP):c.125A>G (p.Lys42Arg) rs886058090
NM_000096.4(CP):c.1265A>G (p.Lys422Arg)
NM_000096.4(CP):c.1275T>C (p.Tyr425=) rs34237139
NM_000096.4(CP):c.1282_1286dup (p.Asp430fs) rs386134145
NM_000096.4(CP):c.1293C>T (p.Ala431=) rs758930665
NM_000096.4(CP):c.1309A>G (p.Lys437Glu) rs764238637
NM_000096.4(CP):c.1313A>G (p.Glu438Gly) rs1553761979
NM_000096.4(CP):c.1348+9T>C rs35272481
NM_000096.4(CP):c.1349-13T>C rs17847017
NM_000096.4(CP):c.1380C>T (p.Thr460=) rs149790356
NM_000096.4(CP):c.1414C>A (p.Pro472Thr)
NM_000096.4(CP):c.1430C>T (p.Pro477Leu) rs35331711
NM_000096.4(CP):c.146+1G>A rs386134134
NM_000096.4(CP):c.1493A>G (p.Gln498Arg) rs17847018
NM_000096.4(CP):c.1503_1504TG[3] (p.Pro503fs) rs1553761391
NM_000096.4(CP):c.151C>T (p.His51Tyr) rs150681942
NM_000096.4(CP):c.1575A>G (p.Val525=) rs760634973
NM_000096.4(CP):c.1613del (p.Met538fs)
NM_000096.4(CP):c.1632= (p.Glu544=) rs701753
NM_000096.4(CP):c.164A>G (p.Tyr55Cys) rs756029950
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458
NM_000096.4(CP):c.1679G>T (p.Cys560Phe) rs1064797073
NM_000096.4(CP):c.1680C>T (p.Cys560=) rs1553761342
NM_000096.4(CP):c.1713+3A>G rs372361874
NM_000096.4(CP):c.1774C>G (p.Leu592Val) rs200226362
NM_000096.4(CP):c.1774C>T (p.Leu592Phe) rs200226362
NM_000096.4(CP):c.1864+1G>C rs1559942361
NM_000096.4(CP):c.1865-1G>A rs386134139
NM_000096.4(CP):c.1865-291_2077+352del rs1553759338
NM_000096.4(CP):c.1874G>A (p.Gly625Glu) rs386134129
NM_000096.4(CP):c.1900C>A (p.Leu634Ile)
NM_000096.4(CP):c.1918del (p.Asp640fs) rs386134146
NM_000096.4(CP):c.1939T>A (p.Phe647Ile)
NM_000096.4(CP):c.1948G>A (p.Gly650Arg) rs776936158
NM_000096.4(CP):c.1950A>C (p.Gly650=) rs1053709
NM_000096.4(CP):c.2066del (p.Pro689fs) rs386134147
NM_000096.4(CP):c.2068del (p.Asp690fs) rs386134148
NM_000096.4(CP):c.2078-74_2241del rs1553759167
NM_000096.4(CP):c.2131C>A (p.Gln711Lys) rs386134130
NM_000096.4(CP):c.2158C>T (p.Arg720Trp) rs145784949
NM_000096.4(CP):c.2180T>C (p.Phe727Ser) rs886058087
NM_000096.4(CP):c.2185del (p.Leu729fs) rs587777922
NM_000096.4(CP):c.2253G>A (p.Trp751Ter) rs1559940237
NM_000096.4(CP):c.2266C>A (p.His756Asn) rs773420516
NM_000096.4(CP):c.2286-12T>G rs183671127
NM_000096.4(CP):c.2286-14dup rs561633350
NM_000096.4(CP):c.2286-15G>T rs34861155
NM_000096.4(CP):c.2286-15del rs143522213
NM_000096.4(CP):c.229G>C (p.Asp77His) rs200683433
NM_000096.4(CP):c.2310G>A (p.Lys770=) rs553883583
NM_000096.4(CP):c.2378G>A (p.Arg793His) rs115552500
NM_000096.4(CP):c.2389del (p.Glu797fs) rs386134149
NM_000096.4(CP):c.2446G>A (p.Val816Ile)
NM_000096.4(CP):c.2482del (p.Ala828fs) rs386134150
NM_000096.4(CP):c.2498C>G (p.Ser833Ter)
NM_000096.4(CP):c.249T>C (p.Thr83=) rs138512757
NM_000096.4(CP):c.2511dup (p.Gly838fs) rs386134151
NM_000096.4(CP):c.2554+14C>G rs200965170
NM_000096.4(CP):c.2554+1G>T rs386134140
NM_000096.4(CP):c.2557G>A (p.Glu853Lys) rs886058086
NM_000096.4(CP):c.2565C>T (p.Leu855=) rs781672409
NM_000096.4(CP):c.2603del (p.Gly868fs) rs386134152
NM_000096.4(CP):c.2611G>A (p.Asp871Asn) rs529607771
NM_000096.4(CP):c.2630G>A (p.Trp877Ter) rs121909579
NM_000096.4(CP):c.2662-12T>C rs16861582
NM_000096.4(CP):c.2662-14T>C rs189155564
NM_000096.4(CP):c.2675G>A (p.Gly892Glu) rs386134131
NM_000096.4(CP):c.2681T>C (p.Ile894Thr)
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388
NM_000096.4(CP):c.2689_2690del (p.Leu897fs) rs386134153
NM_000096.4(CP):c.2697T>C (p.Val899=) rs17847022
NM_000096.4(CP):c.2701C>T (p.Arg901Ter) rs386134156
NM_000096.4(CP):c.2702dup (p.Arg902fs) rs1559935542
NM_000096.4(CP):c.2756T>C (p.Leu919Pro) rs1135401784
NM_000096.4(CP):c.2793A>G (p.Leu931=) rs34987997
NM_000096.4(CP):c.2879-1G>A rs386134141
NM_000096.4(CP):c.2879-1G>T rs386134141
NM_000096.4(CP):c.2917dup (p.Thr973fs) rs386134154
NM_000096.4(CP):c.2953A>G (p.Met985Val) rs386134132
NM_000096.4(CP):c.2962G>A (p.Gly988Ser) rs386134133
NM_000096.4(CP):c.2991T>G (p.His997Gln) rs34394958
NM_000096.4(CP):c.2998G>A (p.Gly1000Ser) rs187293972
NM_000096.4(CP):c.3019-1G>A rs386134142
NM_000096.4(CP):c.347C>A (p.Pro116His) rs73866999
NM_000096.4(CP):c.389A>G (p.His130Arg)
NM_000096.4(CP):c.395-1G>A rs386134135
NM_000096.4(CP):c.407C>T (p.Pro136Leu)
NM_000096.4(CP):c.493C>G (p.Gln165Glu) rs386134122
NM_000096.4(CP):c.508G>A (p.Gly170Arg) rs886058089
NM_000096.4(CP):c.548T>C (p.Ile183Thr) rs386134123
NM_000096.4(CP):c.583G>A (p.Gly195Arg) rs750451693
NM_000096.4(CP):c.587C>G (p.Pro196Arg) rs386134124
NM_000096.4(CP):c.607+1G>A rs386134136
NM_000096.4(CP):c.643C>T (p.Arg215Ter) rs386134155
NM_000096.4(CP):c.650T>C (p.Phe217Ser) rs386134125
NM_000096.4(CP):c.669G>C (p.Val223=) rs35438054
NM_000096.4(CP):c.701A>G (p.Asp234Gly) rs769311718
NM_000096.4(CP):c.782-14C>T rs34067682
NM_000096.4(CP):c.788A>G (p.Asn263Ser) rs150303869
NM_000096.4(CP):c.82A>T (p.Ile28Phe) rs386134121
NM_000096.4(CP):c.848G>C (p.Trp283Ser) rs386134126
NM_000096.4(CP):c.850T>C (p.Tyr284His) rs886058088
NM_000096.4(CP):c.921G>A (p.Lys307=) rs543777038
NM_000096.4(CP):c.938C>T (p.Thr313Ile) rs144401501
NM_000096.4(CP):c.93G>A (p.Thr31=) rs201521886
NM_000096.4(CP):c.944A>G (p.Asn315Ser) rs370682704
NM_000096.4(CP):c.993T>C (p.Pro331=) rs17847025

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