ClinVar Miner

List of variants reported as likely benign for hematologic disorder by Genome-Nilou Lab

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 147
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HGVS dbSNP gnomAD frequency
NM_000128.4(F11):c.1717-48A>G rs5966 0.06916
NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly) rs35219601 0.04960
NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr) rs35274867 0.01982
NM_015506.3(MMACHC):c.*269A>G rs35067820 0.01308
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_000186.4(CFH):c.2634C>T (p.His878=) rs35292876 0.00829
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile) rs138127778 0.00637
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly) rs113671330 0.00608
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_058163.3(TSR2):c.234T>C (p.Asp78=) rs36032873 0.00445
NM_001128227.3(GNE):c.51+63A>G rs185045598 0.00436
NM_000186.4(CFH):c.3050C>T (p.Thr1017Ile) rs34362004 0.00426
NM_001006658.3(CR2):c.2611G>T (p.Val871Leu) rs144572703 0.00319
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_032383.5(HPS3):c.2055G>A (p.Leu685=) rs140443498 0.00300
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00278
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_001164277.2(SLC37A4):c.968C>T (p.Thr323Ile) rs202209699 0.00273
NM_006516.4(SLC2A1):c.1296C>T (p.Tyr432=) rs75485205 0.00267
NM_152564.5(VPS13B):c.10744A>G (p.Ile3582Val) rs145547375 0.00215
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=) rs34025424 0.00176
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879 0.00163
NM_152564.5(VPS13B):c.5905A>G (p.Ile1969Val) rs139640224 0.00154
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=) rs138661755 0.00144
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe) rs144590904 0.00141
NM_004629.2(FANCG):c.20C>T (p.Ser7Phe) rs35984312 0.00138
NM_000186.4(CFH):c.1707C>T (p.Cys569=) rs144976181 0.00129
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292 0.00125
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109 0.00116
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886 0.00115
NM_001006658.3(CR2):c.1458T>C (p.Phe486=) rs147378770 0.00115
NM_006516.4(SLC2A1):c.507C>T (p.Leu169=) rs115541691 0.00102
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_000133.4(F9):c.19A>T (p.Ile7Phe) rs150190385 0.00086
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=) rs139436386 0.00072
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737 0.00071
NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=) rs146879902 0.00065
NM_000186.4(CFH):c.2509G>A (p.Val837Ile) rs55807605 0.00050
NM_000186.4(CFH):c.2637A>G (p.Gly879=) rs55752475 0.00050
NM_006516.4(SLC2A1):c.864C>T (p.Asn288=) rs150384629 0.00047
NM_001006658.3(CR2):c.1152C>T (p.Thr384=) rs145709085 0.00041
NM_000186.4(CFH):c.2821G>T (p.Val941Phe) rs529491401 0.00039
NM_000186.4(CFH):c.245-8C>T rs537160602 0.00038
NM_001006658.3(CR2):c.2747C>T (p.Thr916Ile) rs61754517 0.00033
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=) rs141637316 0.00030
NM_000186.4(CFH):c.3172T>C (p.Tyr1058His) rs55679475 0.00029
NM_000186.4(CFH):c.3178G>C (p.Val1060Leu) rs55771831 0.00029
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266 0.00029
NM_015506.3(MMACHC):c.126G>A (p.Pro42=) rs201112314 0.00025
NM_004629.2(FANCG):c.-7G>A rs772036778 0.00020
NM_006516.4(SLC2A1):c.972+17T>A rs202140308 0.00017
NM_006516.4(SLC2A1):c.276-11C>T rs376422395 0.00016
NM_006516.4(SLC2A1):c.885G>A (p.Thr295=) rs144685583 0.00016
NM_015506.3(MMACHC):c.783G>A (p.Gly261=) rs776623221 0.00011
NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu) rs76672402 0.00010
NM_015506.3(MMACHC):c.165G>A (p.Thr55=) rs369883781 0.00010
NM_000186.4(CFH):c.3318A>G (p.Thr1106=) rs1137971 0.00009
NM_006516.4(SLC2A1):c.1282C>T (p.Leu428=) rs137868589 0.00009
NM_006516.4(SLC2A1):c.18+14C>T rs970369883 0.00009
NM_015506.3(MMACHC):c.462T>C (p.Phe154=) rs199747998 0.00009
NM_015506.3(MMACHC):c.699A>G (p.Leu233=) rs377439596 0.00009
NM_000186.4(CFH):c.2056+16T>C rs777352172 0.00006
NM_000186.4(CFH):c.245-17T>A rs775088366 0.00006
NM_001006658.3(CR2):c.276T>G (p.Pro92=) rs371546344 0.00006
NM_001386140.1(MTTP):c.915G>A (p.Ser305=) rs199716549 0.00006
NM_006516.4(SLC2A1):c.1005C>G (p.Thr335=) rs763664146 0.00006
NM_006516.4(SLC2A1):c.343C>T (p.Leu115=) rs539490455 0.00006
NM_000186.4(CFH):c.2085T>A (p.Pro695=) rs777482186 0.00005
NM_000186.4(CFH):c.59-16T>C rs201067374 0.00005
NM_001006658.3(CR2):c.21C>T (p.Leu7=) rs779365020 0.00005
NM_000186.4(CFH):c.2236+18A>G rs749643506 0.00004
NM_000186.4(CFH):c.2957-15T>C rs756514818 0.00004
NM_000186.4(CFH):c.964+18C>A rs1258420173 0.00004
NM_006516.4(SLC2A1):c.1435C>A (p.Pro479Thr) rs749067830 0.00004
NM_006516.4(SLC2A1):c.180G>A (p.Thr60=) rs780638574 0.00004
NM_006516.4(SLC2A1):c.606C>T (p.Ile202=) rs779779804 0.00004
NM_006516.4(SLC2A1):c.657C>T (p.Asn219=) rs534113895 0.00004
NM_006516.4(SLC2A1):c.822C>T (p.Ile274=) rs368242382 0.00004
NM_015506.3(MMACHC):c.402T>C (p.Asp134=) rs774024065 0.00004
NM_015506.3(MMACHC):c.700T>C (p.Leu234=) rs199964843 0.00004
NM_000186.4(CFH):c.2868G>A (p.Thr956=) rs533238588 0.00003
NM_001006658.3(CR2):c.2156-16A>C rs777216094 0.00003
NM_001006658.3(CR2):c.621C>T (p.Pro207=) rs573346582 0.00003
NM_006516.4(SLC2A1):c.339G>A (p.Ser113=) rs755571737 0.00003
NM_006516.4(SLC2A1):c.624C>G (p.Pro208=) rs778522408 0.00003
NM_015506.3(MMACHC):c.82-10T>C rs778416032 0.00003
NM_000136.3(FANCC):c.1414G>A (p.Gly472Arg) rs201063698 0.00002
NM_000186.4(CFH):c.2427A>G (p.Gln809=) rs758809077 0.00002
NM_000186.4(CFH):c.906C>G (p.Thr302=) rs148552495 0.00002
NM_006516.4(SLC2A1):c.1107C>T (p.Ile369=) rs145962512 0.00002
NM_006516.4(SLC2A1):c.495C>T (p.Val165=) rs181115612 0.00002
NM_006516.4(SLC2A1):c.708C>T (p.Asp236=) rs566497194 0.00002
NM_006516.4(SLC2A1):c.798C>T (p.Pro266=) rs201996220 0.00002
NM_015506.3(MMACHC):c.574C>T (p.Leu192=) rs762919217 0.00002
NM_015506.3(MMACHC):c.606T>C (p.Asp202=) rs748881103 0.00002
NM_000186.4(CFH):c.2236+10C>G rs755790229 0.00001
NM_000186.4(CFH):c.2946A>G (p.Pro982=) rs553471643 0.00001
NM_000186.4(CFH):c.849A>G (p.Lys283=) rs771886590 0.00001
NM_004629.2(FANCG):c.1287C>T (p.Pro429=) rs767253119 0.00001
NM_006516.4(SLC2A1):c.1059C>T (p.Ile353=) rs372092107 0.00001
NM_006516.4(SLC2A1):c.1069C>T (p.Leu357=) rs755679518 0.00001
NM_006516.4(SLC2A1):c.1134C>T (p.Phe378=) rs758184335 0.00001
NM_006516.4(SLC2A1):c.1152C>T (p.Gly384=) rs750237005 0.00001
NM_006516.4(SLC2A1):c.123G>A (p.Glu41=) rs769414573 0.00001
NM_006516.4(SLC2A1):c.1297G>A (p.Val433Ile) rs200819771 0.00001
NM_006516.4(SLC2A1):c.189G>A (p.Thr63=) rs766043826 0.00001
NM_006516.4(SLC2A1):c.318C>T (p.Ser106=) rs760599149 0.00001
NM_006516.4(SLC2A1):c.492C>T (p.Ile164=) rs759617721 0.00001
NM_006516.4(SLC2A1):c.680-16C>T rs752942175 0.00001
NM_006516.4(SLC2A1):c.696C>T (p.Arg232=) rs770293853 0.00001
NM_006516.4(SLC2A1):c.939C>T (p.Ser313=) rs775408842 0.00001
NM_006516.4(SLC2A1):c.957C>A (p.Ala319=) rs1643460439 0.00001
NM_015506.3(MMACHC):c.477C>T (p.Ala159=) rs747698015 0.00001
NM_152564.5(VPS13B):c.9603A>G (p.Gly3201=) rs564362618 0.00001
NM_000128.4(F11):c.1481-34G>T rs2289253
NM_000128.4(F11):c.1576+51C>A rs2289254
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile) rs536839082
NM_000186.4(CFH):c.1617T>C (p.Gly539=)
NM_000186.4(CFH):c.1935G>A (p.Thr645=) rs56035657
NM_000186.4(CFH):c.2783-3dup rs748791414
NM_000186.4(CFH):c.318T>C (p.Tyr106=) rs1448752091
NM_001006658.3(CR2):c.1104A>T (p.Arg368=) rs1572954261
NM_001006658.3(CR2):c.3189-8_3189-7del rs112859639
NM_001006658.3(CR2):c.624C>A (p.Pro208=) rs61759494
NM_001386140.1(MTTP):c.1233C>T (p.Leu411=) rs1179169124
NM_006516.4(SLC2A1):c.1023C>T (p.Leu341=) rs143588685
NM_006516.4(SLC2A1):c.1075-14G>A rs777450540
NM_006516.4(SLC2A1):c.1155C>T (p.Pro385=) rs76860965
NM_006516.4(SLC2A1):c.1362G>A (p.Glu454=) rs1469205406
NM_006516.4(SLC2A1):c.312C>T (p.Phe104=) rs76672402
NM_006516.4(SLC2A1):c.354C>T (p.Ser118=) rs1393465480
NM_006516.4(SLC2A1):c.684A>G (p.Leu228=) rs2124449097
NM_006516.4(SLC2A1):c.750G>A (p.Gln250=) rs1553156067
NM_006516.4(SLC2A1):c.852G>A (p.Leu284=) rs1553156049
NM_006516.4(SLC2A1):c.945C>T (p.Ile315=) rs780528770
NM_006516.4(SLC2A1):c.972+20C>G rs781545555
NM_006516.4(SLC2A1):c.972+7C>G rs1553155998
NM_015506.3(MMACHC):c.259C>T (p.Leu87=) rs776402014
NM_015506.3(MMACHC):c.277-4C>A rs199889403
NM_015506.3(MMACHC):c.433A>T (p.Ile145Leu) rs74365027
NM_015506.3(MMACHC):c.615C>T (p.Tyr205=) rs747527726
NM_015506.3(MMACHC):c.651A>G (p.Glu217=) rs948189041
NM_015506.3(MMACHC):c.729T>C (p.Pro243=) rs891106099
NM_015506.3(MMACHC):c.801G>A (p.Arg267=) rs751017212

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