ClinVar Miner

List of variants in gene MCFD2 studied for Factor 5 and Factor VIII, combined deficiency of, 2

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Gene type:
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Total variants: 111
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HGVS dbSNP gnomAD frequency
NM_139279.6(MCFD2):c.*1267G>T rs7596245 0.76204
NM_139279.6(MCFD2):c.*1752T>C rs6544935 0.73719
NM_139279.6(MCFD2):c.*2454C>A rs1051317 0.20979
NM_139279.6(MCFD2):c.*693G>C rs28516550 0.11926
NM_139279.6(MCFD2):c.*2075C>T rs6743966 0.11844
NM_139279.6(MCFD2):c.*2658C>T rs17035887 0.11807
NM_139279.6(MCFD2):c.*498A>G rs144674773 0.06645
NM_139279.6(MCFD2):c.*1908G>C rs6743994 0.06473
NM_139279.6(MCFD2):c.*1924T>C rs6715391 0.06423
NM_139279.6(MCFD2):c.*1525C>G rs7596198 0.06380
NM_139279.6(MCFD2):c.*2675C>G rs17035884 0.06201
NM_139279.6(MCFD2):c.*3318T>C rs8861 0.05885
NM_139279.6(MCFD2):c.*133A>T rs75416242 0.05300
NM_139279.6(MCFD2):c.*73A>G rs71423925 0.04579
NM_139279.6(MCFD2):c.*3100C>G rs13424086 0.03363
NM_139279.6(MCFD2):c.*1788C>T rs115043642 0.03146
NM_139279.6(MCFD2):c.*1042C>T rs111603188 0.02828
NM_139279.6(MCFD2):c.*1346G>T rs111535939 0.02827
NM_139279.6(MCFD2):c.*2163A>G rs140937815 0.02097
NM_139279.6(MCFD2):c.*1010G>T rs138758588 0.01819
NM_139279.6(MCFD2):c.*2761T>C rs193204253 0.01332
NM_139279.6(MCFD2):c.*1724C>T rs115137793 0.01078
NM_139279.6(MCFD2):c.*1043G>A rs114662283 0.01064
NM_139279.6(MCFD2):c.*2336A>C rs144118640 0.01059
NM_139279.6(MCFD2):c.*1124G>A rs190398265 0.01009
NM_139279.6(MCFD2):c.*1407C>T rs138459734 0.00806
NM_139279.6(MCFD2):c.*1995G>A rs183896754 0.00603
NM_139279.6(MCFD2):c.310-11G>C rs144139062 0.00567
NM_139279.6(MCFD2):c.*569G>A rs149363149 0.00473
NM_139279.6(MCFD2):c.*1111G>C rs181922575 0.00461
NM_139279.6(MCFD2):c.*2056T>G rs145495352 0.00421
NM_139279.6(MCFD2):c.*354C>T rs191255002 0.00396
NM_139279.6(MCFD2):c.*1415C>T rs147096932 0.00317
NM_139279.6(MCFD2):c.*2848C>T rs142254354 0.00248
NM_139279.6(MCFD2):c.*517C>G rs761766519 0.00228
NM_139279.6(MCFD2):c.*84T>C rs182576601 0.00207
NM_139279.6(MCFD2):c.*2423A>G rs139408737 0.00120
NM_001171506.2(MCFD2):c.*3591C>G rs78040887 0.00115
NM_139279.6(MCFD2):c.*3272A>G rs148722702 0.00110
NM_139279.6(MCFD2):c.*64T>C rs754447509 0.00102
NM_139279.6(MCFD2):c.*1314C>T rs150644996 0.00093
NM_139279.6(MCFD2):c.*557G>A rs185756640 0.00078
NM_139279.6(MCFD2):c.-7+11T>A rs201752014 0.00070
NM_139279.6(MCFD2):c.*912C>T rs189018618 0.00040
NM_139279.6(MCFD2):c.*62T>G rs886056117 0.00031
NM_139279.6(MCFD2):c.249del (p.Asp83fs) rs1294221028 0.00022
NM_139279.6(MCFD2):c.*1875T>C rs552695942 0.00021
NM_139279.6(MCFD2):c.*1187C>T rs550737178 0.00016
NM_139279.6(MCFD2):c.*2017C>T rs886056111 0.00016
NM_139279.6(MCFD2):c.*2843T>A rs559142075 0.00016
NM_139279.6(MCFD2):c.*3014G>A rs886056107 0.00016
NM_139279.6(MCFD2):c.*418C>G rs1043866618 0.00011
NM_139279.6(MCFD2):c.*3293A>C rs763634945 0.00010
NM_139279.6(MCFD2):c.*2121G>A rs187335799 0.00006
NM_139279.6(MCFD2):c.*2983T>C rs1316076292 0.00006
NM_139279.6(MCFD2):c.*1158C>A rs886056113 0.00005
NM_139279.6(MCFD2):c.*2128C>T rs1030805726 0.00005
NM_139279.6(MCFD2):c.*2556C>T rs1009835953 0.00005
NM_139279.6(MCFD2):c.*445A>G rs1160902939 0.00005
NM_139279.6(MCFD2):c.*1151G>C rs761404637 0.00004
NM_139279.6(MCFD2):c.*311G>A rs886056115 0.00003
NM_139279.6(MCFD2):c.*375T>C rs957621417 0.00003
NM_139279.6(MCFD2):c.106C>G (p.Pro36Ala) rs756021929 0.00003
NM_139279.6(MCFD2):c.416C>T (p.Ala139Val) rs80294301 0.00003
NM_139279.6(MCFD2):c.*1354G>T rs886056112 0.00002
NM_139279.6(MCFD2):c.*2169G>A rs79487300 0.00002
NM_139279.6(MCFD2):c.*428G>A rs781195000 0.00002
NM_139279.6(MCFD2):c.*640C>T rs534106665 0.00002
NM_139279.6(MCFD2):c.*991G>A rs1259504368 0.00002
NM_139279.6(MCFD2):c.*1024C>T rs1668136066 0.00001
NM_139279.6(MCFD2):c.*1079C>T rs980914930 0.00001
NM_139279.6(MCFD2):c.*1316G>T rs1301628664 0.00001
NM_139279.6(MCFD2):c.*1448G>A rs1041505834 0.00001
NM_139279.6(MCFD2):c.*1537G>C rs1280227531 0.00001
NM_139279.6(MCFD2):c.*1610A>T rs1668107899 0.00001
NM_139279.6(MCFD2):c.*173G>T rs886056116 0.00001
NM_139279.6(MCFD2):c.*2647A>C rs374313566 0.00001
NM_139279.6(MCFD2):c.*2760G>T rs1403622431 0.00001
NM_139279.6(MCFD2):c.*2789G>C rs886056108 0.00001
NM_139279.6(MCFD2):c.*648C>T rs1468272258 0.00001
NM_139279.6(MCFD2):c.138G>A (p.Val46=) rs766859640 0.00001
NM_139279.6(MCFD2):c.149+5G>A rs387906286 0.00001
NM_139279.6(MCFD2):c.236T>C (p.Met79Thr) rs886056118 0.00001
NM_139279.6(MCFD2):c.321A>G (p.Glu107=) rs1322883135 0.00001
NM_139279.6(MCFD2):c.363A>G (p.Ile121Met) rs768388209 0.00001
NM_139279.6(MCFD2):c.407T>C (p.Ile136Thr) rs137852914 0.00001
NM_139279.6(MCFD2):c.*1059C>G rs1420248449
NM_139279.6(MCFD2):c.*1464A>G rs1207325090
NM_139279.6(MCFD2):c.*1677T>G rs28770495
NM_139279.6(MCFD2):c.*1867C>A rs1558458280
NM_139279.6(MCFD2):c.*2106T>G rs1668088874
NM_139279.6(MCFD2):c.*2141G>C rs546151221
NM_139279.6(MCFD2):c.*217T>G rs746370141
NM_139279.6(MCFD2):c.*2436G>T rs535350829
NM_139279.6(MCFD2):c.*2565A>G rs886056110
NM_139279.6(MCFD2):c.*3099G>A rs886056106
NM_139279.6(MCFD2):c.*3354A>G rs886056105
NM_139279.6(MCFD2):c.*422T>C rs1668160546
NM_139279.6(MCFD2):c.*529G>A rs542831100
NM_139279.6(MCFD2):c.*632T>C rs1668150921
NM_139279.6(MCFD2):c.*751G>A rs544942135
NM_139279.6(MCFD2):c.*79A>G rs1572605422
NM_139279.6(MCFD2):c.*892G>A rs886056114
NM_139279.6(MCFD2):c.-34C>A rs886056119
NM_139279.6(MCFD2):c.103del (p.Gln35fs) rs1253799389
NM_139279.6(MCFD2):c.108C>A (p.Pro36=) rs767456045
NM_139279.6(MCFD2):c.241G>T (p.Asp81Tyr) rs78289603
NM_139279.6(MCFD2):c.265_272del (p.Asp89fs) rs1558461545
NM_139279.6(MCFD2):c.309+1G>A rs387906287
NM_139279.6(MCFD2):c.387C>G (p.Asp129Glu) rs137852913
NM_139279.6(MCFD2):c.47T>C (p.Leu16Pro) rs1572611822

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