ClinVar Miner

List of variants studied for hematologic disorder by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_001001548.3(CD36):c.1150del (p.Ala384fs) rs551607784 0.00157
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln) rs113403872 0.00052
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) rs398123546 0.00014
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys) rs61750077 0.00010
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu) rs121913578 0.00009
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_138387.4(G6PC3):c.207dup (p.Ile70fs) rs1191239079 0.00003
NM_000298.6(PKLR):c.307del (p.Arg103fs) rs1433205059 0.00001
NM_000061.3(BTK):c.726dup (p.Ile243fs) rs1569292774
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter) rs1298362744
NM_000129.4(F13A1):c.1352_1353del (p.His451fs) rs1561645895
NM_000135.4(FANCA):c.2807A>G (p.Glu936Gly) rs766643461
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000506.5(F2):c.1787G>A (p.Arg596Gln) rs387907201
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000969.5(RPL5):c.692dup (p.Thr232fs) rs1571032029
NM_001001548.3(CD36):c.1416_*1del (p.Lys472fs) rs771061715
NM_001142864.4(PIEZO1):c.7477CTGGAG[3] (p.2493LE[3]) rs587776992
NM_001355436.2(SPTB):c.5266C>T (p.Arg1756Ter) rs267607086
NM_001364905.1(LRBA):c.1933C>T (p.Arg645Ter)
NM_002017.5(FLI1):c.852G>T (p.Trp284Cys) rs1942909159
NM_006060.6(IKZF1):c.546C>A (p.Cys182Ter) rs530073586
NM_031471.6(FERMT3):c.1601_1602del (p.Glu534fs)
NM_138387.4(G6PC3):c.199_218+1del rs1597905369
NM_138477.4(CDAN1):c.2062C>T (p.Arg688Trp)
NM_138477.4(CDAN1):c.3290dup (p.Gly1098fs)
NM_172351.3(CD46):c.857-1G>A
NM_182916.3(TRNT1):c.443C>T (p.Ala148Val) rs761516140
NM_203447.4(DOCK8):c.1357G>T (p.Glu453Ter)

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