ClinVar Miner

List of variants reported as likely benign for Deficiency of ferroxidase by Invitae

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ClinVar version:
Total variants: 140
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HGVS dbSNP gnomAD frequency
NM_000096.4(CP):c.322C>T (p.His108Tyr) rs34386552 0.00235
NM_000096.4(CP):c.2571C>T (p.Tyr857=) rs151304828 0.00189
NM_000096.4(CP):c.1945G>A (p.Ala649Thr) rs141466225 0.00186
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_000096.4(CP):c.249T>C (p.Thr83=) rs138512757 0.00058
NM_000096.4(CP):c.2878+7C>A rs371031293 0.00055
NM_000096.4(CP):c.2554+8C>T rs749646388 0.00049
NM_000096.4(CP):c.938C>T (p.Thr313Ile) rs144401501 0.00037
NM_000096.4(CP):c.2554+14C>T rs200965170 0.00026
NM_000096.4(CP):c.2565C>T (p.Leu855=) rs781672409 0.00026
NM_000096.4(CP):c.716A>T (p.Tyr239Phe) rs145481253 0.00024
NM_000096.4(CP):c.1104G>C (p.Gly368=) rs142503847 0.00021
NM_000096.4(CP):c.1487A>G (p.Asn496Ser) rs541708867 0.00021
NM_000096.4(CP):c.301A>G (p.Thr101Ala) rs148041351 0.00021
NM_000096.4(CP):c.261G>A (p.Pro87=) rs142440055 0.00016
NM_000096.4(CP):c.1458C>T (p.Asn486=) rs144537170 0.00014
NM_000096.4(CP):c.93G>A (p.Thr31=) rs201521886 0.00013
NM_000096.4(CP):c.1493A>G (p.Gln498Arg) rs17847018 0.00011
NM_000096.4(CP):c.929G>A (p.Arg310His) rs202217551 0.00010
NM_000096.4(CP):c.720C>T (p.Cys240=) rs141646117 0.00009
NM_000096.4(CP):c.1548C>T (p.Thr516=) rs184516720 0.00006
NM_000096.4(CP):c.1714-20C>T rs367695920 0.00006
NM_000096.4(CP):c.2952G>A (p.Leu984=) rs752058749 0.00006
NM_000096.4(CP):c.3183C>T (p.Asp1061=) rs184845153 0.00006
NM_000096.4(CP):c.1131C>T (p.Ala377=) rs150733154 0.00005
NM_000096.4(CP):c.1437G>A (p.Gly479=) rs200883005 0.00004
NM_000096.4(CP):c.1899T>C (p.Gly633=) rs147192657 0.00004
NM_000096.4(CP):c.2142T>C (p.Thr714=) rs61734460 0.00004
NM_000096.4(CP):c.623A>G (p.Glu208Gly) rs200933607 0.00004
NM_000096.4(CP):c.750C>T (p.Asn250=) rs753021289 0.00004
NM_000096.4(CP):c.1209-10C>T rs1553762033 0.00003
NM_000096.4(CP):c.1575A>G (p.Val525=) rs760634973 0.00003
NM_000096.4(CP):c.1939T>A (p.Phe647Ile) rs755977561 0.00003
NM_000096.4(CP):c.1944C>T (p.Ser648=) rs376272235 0.00003
NM_000096.4(CP):c.1422T>C (p.Ser474=) rs570042183 0.00002
NM_000096.4(CP):c.229G>C (p.Asp77His) rs200683433 0.00002
NM_000096.4(CP):c.2310G>A (p.Lys770=) rs553883583 0.00002
NM_000096.4(CP):c.863T>C (p.Met288Thr) rs747305045 0.00002
NM_000096.4(CP):c.1036+16C>T rs376410072 0.00001
NM_000096.4(CP):c.1036+8A>G rs369718195 0.00001
NM_000096.4(CP):c.1098C>T (p.Ile366=) rs117829763 0.00001
NM_000096.4(CP):c.1188A>G (p.Glu396=) rs928128624 0.00001
NM_000096.4(CP):c.1293C>T (p.Ala431=) rs758930665 0.00001
NM_000096.4(CP):c.1380C>T (p.Thr460=) rs149790356 0.00001
NM_000096.4(CP):c.146+7C>T rs1728813630 0.00001
NM_000096.4(CP):c.1713+15G>A rs1400784376 0.00001
NM_000096.4(CP):c.1818G>A (p.Gln606=) rs766556425 0.00001
NM_000096.4(CP):c.1896G>A (p.Pro632=) rs764073986 0.00001
NM_000096.4(CP):c.1923G>A (p.Ser641=) rs745966582 0.00001
NM_000096.4(CP):c.1974A>C (p.Ile658=) rs751761820 0.00001
NM_000096.4(CP):c.2442A>G (p.Ala814=) rs762942794 0.00001
NM_000096.4(CP):c.2555-20T>C rs1725654318 0.00001
NM_000096.4(CP):c.2697T>C (p.Val899=) rs17847022 0.00001
NM_000096.4(CP):c.462G>A (p.Gln154=) rs766925024 0.00001
NM_000096.4(CP):c.471C>T (p.Tyr157=) rs773374620 0.00001
NM_000096.4(CP):c.514G>C (p.Gly172Arg) rs768492670 0.00001
NM_000096.4(CP):c.528T>C (p.Thr176=) rs778533284 0.00001
NM_000096.4(CP):c.607+15T>C rs1439440422 0.00001
NM_000096.4(CP):c.1029T>C (p.His343=)
NM_000096.4(CP):c.1036+15C>T
NM_000096.4(CP):c.1037-16_1037-13del rs760010903
NM_000096.4(CP):c.1037-5T>C
NM_000096.4(CP):c.1056C>T (p.Phe352=)
NM_000096.4(CP):c.1125C>T (p.Tyr375=)
NM_000096.4(CP):c.1208+18A>G
NM_000096.4(CP):c.1218G>A (p.Ala406=)
NM_000096.4(CP):c.1254C>T (p.Gly418=)
NM_000096.4(CP):c.1269G>A (p.Leu423=) rs2108278024
NM_000096.4(CP):c.1320C>T (p.Gly440=)
NM_000096.4(CP):c.141T>C (p.Val47=)
NM_000096.4(CP):c.1431G>A (p.Pro477=) rs763429281
NM_000096.4(CP):c.1467A>G (p.Thr489=)
NM_000096.4(CP):c.1501+18T>A rs2108271964
NM_000096.4(CP):c.1551T>C (p.Tyr517=)
NM_000096.4(CP):c.1680C>T (p.Cys560=) rs1553761342
NM_000096.4(CP):c.1698T>C (p.His566=)
NM_000096.4(CP):c.1714-13_1714-9del rs2108244342
NM_000096.4(CP):c.1758T>C (p.Asp586=)
NM_000096.4(CP):c.1864+12A>G
NM_000096.4(CP):c.1865-12C>G
NM_000096.4(CP):c.1959C>T (p.Ala653=)
NM_000096.4(CP):c.1995T>C (p.Tyr665=) rs1351532741
NM_000096.4(CP):c.2011C>T (p.Arg671Trp)
NM_000096.4(CP):c.2052G>A (p.Thr684=)
NM_000096.4(CP):c.210C>T (p.Ala70=)
NM_000096.4(CP):c.2133A>G (p.Gln711=)
NM_000096.4(CP):c.2202C>T (p.Tyr734=) rs2108235775
NM_000096.4(CP):c.2263C>T (p.Leu755=) rs763571936
NM_000096.4(CP):c.2285+9C>G
NM_000096.4(CP):c.2286-15G>A rs34861155
NM_000096.4(CP):c.2286-18G>C
NM_000096.4(CP):c.2316G>A (p.Glu772=)
NM_000096.4(CP):c.2331A>C (p.Ser777=) rs746132110
NM_000096.4(CP):c.2367T>C (p.Asp789=) rs1725922755
NM_000096.4(CP):c.240T>C (p.Phe80=)
NM_000096.4(CP):c.2421T>A (p.Ile807=) rs998289672
NM_000096.4(CP):c.2514G>A (p.Gly838=) rs1238808502
NM_000096.4(CP):c.2554+10G>A
NM_000096.4(CP):c.2555-12T>C
NM_000096.4(CP):c.2555-4T>G
NM_000096.4(CP):c.2622T>C (p.Cys874=)
NM_000096.4(CP):c.2662-13T>C rs200646301
NM_000096.4(CP):c.2704A>C (p.Arg902=) rs2108216869
NM_000096.4(CP):c.2811A>G (p.Thr937=)
NM_000096.4(CP):c.2835A>G (p.Val945=) rs2108216294
NM_000096.4(CP):c.2878+9C>T rs769666265
NM_000096.4(CP):c.2925C>T (p.His975=)
NM_000096.4(CP):c.2934T>C (p.Asp978=)
NM_000096.4(CP):c.2977T>C (p.Leu993=)
NM_000096.4(CP):c.3003T>C (p.His1001=)
NM_000096.4(CP):c.3018+8C>G
NM_000096.4(CP):c.3018+8C>T
NM_000096.4(CP):c.3018+9_3018+12dup rs1342162840
NM_000096.4(CP):c.306A>G (p.Gly102=)
NM_000096.4(CP):c.3076C>T (p.Leu1026=)
NM_000096.4(CP):c.3111A>G (p.Leu1037=)
NM_000096.4(CP):c.3181+11A>C
NM_000096.4(CP):c.3182-7T>A
NM_000096.4(CP):c.3186C>A (p.Thr1062=)
NM_000096.4(CP):c.390T>A (p.His130Gln)
NM_000096.4(CP):c.395-14A>T
NM_000096.4(CP):c.395-20C>T
NM_000096.4(CP):c.40A>G (p.Ser14Gly)
NM_000096.4(CP):c.411T>C (p.Asp137=) rs747012860
NM_000096.4(CP):c.438T>C (p.Asp146=) rs778389238
NM_000096.4(CP):c.465T>C (p.Tyr155=)
NM_000096.4(CP):c.468A>C (p.Thr156=) rs532168420
NM_000096.4(CP):c.552T>C (p.Asp184=)
NM_000096.4(CP):c.607+18T>A
NM_000096.4(CP):c.607+18T>C
NM_000096.4(CP):c.607+9_607+11del
NM_000096.4(CP):c.608-4_608-3insT
NM_000096.4(CP):c.608-6C>T
NM_000096.4(CP):c.738T>C (p.Val246=) rs1727947362
NM_000096.4(CP):c.746A>C (p.Asp249Ala)
NM_000096.4(CP):c.782-10T>C
NM_000096.4(CP):c.782-9G>T rs566719310
NM_000096.4(CP):c.909A>G (p.Ala303=)
NM_000096.4(CP):c.966T>C (p.Phe322=) rs1727813358
NM_000096.4(CP):c.984C>T (p.Ala328=) rs2108290269

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