ClinVar Miner

List of variants reported as likely benign for megaloblastic anemia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_001849.4(COL6A2):c.2979C>T (p.Arg993=) rs6652 0.14487
NM_000373.4(UMPS):c.*56del rs3836305 0.09036
NM_001849.4(COL6A2):c.*116T>C rs3087667 0.08255
NM_001849.4(COL6A2):c.2803G>A (p.Gly935Arg) rs35548026 0.08193
NM_001849.4(COL6A2):c.*61G>A rs1043801 0.05523
NM_001849.4(COL6A2):c.3043A>C (p.Ile1015Leu) rs11910483 0.02152
NM_001081.4(CUBN):c.9565A>G (p.Ile3189Val) rs111265129 0.01345
NM_001849.4(COL6A2):c.2592G>A (p.Thr864=) rs1042930 0.01149
NM_000373.4(UMPS):c.*4078T>C rs13315593 0.01135
NM_080669.6(SLC46A1):c.*4316C>G rs117397871 0.01065
NM_000373.4(UMPS):c.*2901G>C rs144492816 0.00977
NM_000373.4(UMPS):c.*2884A>G rs139426908 0.00976
NM_000373.4(UMPS):c.*3732C>T rs111966656 0.00908
NM_080669.6(SLC46A1):c.*2123G>C rs7225850 0.00854
NM_000373.4(UMPS):c.*1349G>A rs138112683 0.00768
NM_001081.4(CUBN):c.7365T>A (p.Asp2455Glu) rs117128556 0.00569
NM_001081.4(CUBN):c.6469A>G (p.Asn2157Asp) rs144360241 0.00541
NM_006996.3(SLC19A2):c.-114C>T rs145285893 0.00519
NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr) rs117931394 0.00474
NM_001081.4(CUBN):c.2756A>G (p.His919Arg) rs148869805 0.00464
NM_000373.4(UMPS):c.21T>C (p.Ala7=) rs17843775 0.00389
NM_001081.4(CUBN):c.9125A>G (p.Asn3042Ser) rs142581908 0.00371
NM_001081.4(CUBN):c.10383C>T (p.Ser3461=) rs141937843 0.00363
NM_000373.4(UMPS):c.*4876C>G rs192036374 0.00361
NM_001081.4(CUBN):c.1794C>T (p.Tyr598=) rs140184467 0.00358
NM_000373.4(UMPS):c.88A>G (p.Ser30Gly) rs17843776 0.00350
NM_080669.6(SLC46A1):c.*3120A>G rs147971222 0.00348
NM_001081.4(CUBN):c.*769G>A rs149618660 0.00335
NM_001081.4(CUBN):c.10267G>A (p.Val3423Ile) rs145872906 0.00305
NM_001081.4(CUBN):c.5680A>G (p.Ile1894Val) rs76789390 0.00304
NM_080669.6(SLC46A1):c.*1648G>A rs114008979 0.00295
NM_080669.6(SLC46A1):c.756C>G (p.Val252=) rs185900287 0.00274
NM_001081.4(CUBN):c.2656G>A (p.Glu886Lys) rs138545198 0.00253
NM_001081.4(CUBN):c.1470G>A (p.Pro490=) rs143255616 0.00243
NM_080669.6(SLC46A1):c.*2852C>T rs569526091 0.00243
NM_001081.4(CUBN):c.2182T>C (p.Phe728Leu) rs147752521 0.00217
NM_001081.4(CUBN):c.1530+12A>C rs138936163 0.00212
NM_001081.4(CUBN):c.1681G>A (p.Asp561Asn) rs147449194 0.00181
NM_001081.4(CUBN):c.8968G>A (p.Val2990Ile) rs115888073 0.00169
NM_001081.4(CUBN):c.4200C>T (p.Gly1400=) rs150663813 0.00159
NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val) rs141640975 0.00155
NM_080669.6(SLC46A1):c.642G>A (p.Leu214=) rs145398587 0.00145
NM_080669.6(SLC46A1):c.294C>A (p.Leu98=) rs371270310 0.00110
NM_080669.6(SLC46A1):c.*1332G>A rs146041886 0.00101
NM_001081.4(CUBN):c.1951C>G (p.Arg651Gly) rs182512508 0.00086
NM_000373.4(UMPS):c.*1155T>C rs112368493 0.00070
NM_000373.4(UMPS):c.*4016T>C rs77601301 0.00061
NM_001081.4(CUBN):c.2016G>A (p.Pro672=) rs148107237 0.00052
NM_001081.4(CUBN):c.6089G>A (p.Arg2030Gln) rs143400113 0.00041
NM_000373.4(UMPS):c.*3065C>T rs116880739 0.00038
NM_001081.4(CUBN):c.5207C>T (p.Ser1736Leu) rs191787640 0.00027
NM_001081.4(CUBN):c.1811C>T (p.Pro604Leu) rs200537125 0.00026
NM_001081.4(CUBN):c.5926+5G>A rs143301088 0.00019
NM_000373.4(UMPS):c.*3264G>A rs190423326 0.00018
NM_001081.4(CUBN):c.*266C>T rs374059721 0.00014
NM_001081.4(CUBN):c.2138C>T (p.Thr713Met) rs141420691 0.00014
NM_001081.4(CUBN):c.2922C>T (p.Phe974=) rs201802902 0.00014
NM_000373.4(UMPS):c.1374T>C (p.Asp458=) rs200608473 0.00013
NM_000373.4(UMPS):c.*3494G>A rs575063959 0.00011
NM_001081.4(CUBN):c.5148C>T (p.Phe1716=) rs370581324 0.00011
NM_080669.6(SLC46A1):c.*1392C>A rs141940033 0.00011
NM_001081.4(CUBN):c.10759G>A (p.Gly3587Arg) rs201484266 0.00010
NM_000373.4(UMPS):c.*348C>T rs186337218 0.00009
NM_080669.6(SLC46A1):c.*60G>T rs41297121 0.00006
NM_000373.4(UMPS):c.*3130C>T rs374728245 0.00003
NM_001081.4(CUBN):c.*380T>C rs188873973 0.00003
NM_000373.4(UMPS):c.*2202del rs397844102
NM_000373.4(UMPS):c.*2412GAA[1] rs369976877
NM_000373.4(UMPS):c.18A>G (p.Ala6=) rs141501397
NM_001081.4(CUBN):c.*330G>A rs181630914
NM_001081.4(CUBN):c.*330G>C rs181630914
NM_001081.4(CUBN):c.*420C>T rs182278265
NM_001081.4(CUBN):c.6276C>T (p.Cys2092=) rs146319349
NM_001849.4(COL6A2):c.*119A>G rs1043962
NM_001849.4(COL6A2):c.2697G>T (p.Thr899=) rs11554669
NM_080669.6(SLC46A1):c.*4035G>A rs569679076
NM_080669.6(SLC46A1):c.906A>G (p.Lys302=) rs572650603
NM_206965.2(FTCD):c.1443+9del rs372045405

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