ClinVar Miner

List of variants reported as not provided for hematologic disorder by GenomeConnect, ClinGen

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_000324.3(RHAG):c.808G>A (p.Val270Ile) rs16879498 0.04007
NM_002473.6(MYH9):c.136C>T (p.Leu46Phe) rs147122501 0.00554
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) rs147390654 0.00294
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser) rs138824667 0.00256
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp) rs119468010 0.00173
NM_000173.7(GP1BA):c.92T>C (p.Val31Ala) rs201827537 0.00078
NM_000174.5(GP9):c.182A>G (p.Asn61Ser) rs5030764 0.00076
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) rs200483477 0.00072
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_001364905.1(LRBA):c.4855G>T (p.Val1619Leu) rs143883830 0.00060
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu) rs141046414 0.00054
NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn) rs200648652 0.00034
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn) rs72553877 0.00034
NM_001754.5(RUNX1):c.155T>A (p.Met52Lys) rs200431130 0.00028
NM_004119.3(FLT3):c.2211G>C (p.Met737Ile) rs148592477 0.00025
NM_203447.4(DOCK8):c.5828C>T (p.Thr1943Ile) rs148368084 0.00025
NM_001322934.2(NFKB2):c.1972C>T (p.Arg658Trp) rs200373995 0.00024
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe) rs61756147 0.00021
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_001081.4(CUBN):c.7646C>T (p.Thr2549Met) rs537292240 0.00009
NM_000821.7(GGCX):c.763G>A (p.Val255Met) rs121909683 0.00007
NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter) rs147277149 0.00007
NM_203447.4(DOCK8):c.2383G>C (p.Val795Leu) rs369449324 0.00007
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln) rs41464951 0.00006
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala) rs138023744 0.00006
NM_018368.4(LMBRD1):c.1510G>T (p.Val504Leu) rs980145400 0.00006
NM_001376013.1(EPB41):c.2047G>C (p.Ala683Pro) rs199764020 0.00005
NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu) rs374537936 0.00004
NM_000289.6(PFKM):c.59T>C (p.Val20Ala) rs755992543 0.00004
NM_004972.4(JAK2):c.2571+5A>C rs775085241 0.00004
NM_203447.4(DOCK8):c.2971-5C>T rs373718659 0.00004
NM_005476.7(GNE):c.1844C>G (p.Ser615Ter) rs757523840 0.00003
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs) rs80359380 0.00001
NM_000128.4(F11):c.1178C>T (p.Ala393Val) rs547842083 0.00001
NM_002473.6(MYH9):c.2290C>T (p.Arg764Cys) rs1383986403 0.00001
NM_181523.3(PIK3R1):c.536T>C (p.Val179Ala) rs771949848 0.00001
GRCh37/hg19 16q24.3(chr16:89874496-89888566)x1
GRCh37/hg19 17q21.31(chr17:41230488-41235856)x3
GRCh37/hg19 1q21.1(chr1:145415156-145799615)x1
GRCh37/hg19 3p22.1(chr3:39423783-39438788)x3
GRCh37/hg19 8q22.2(chr8:100133404-100133674)x1
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.4(BRCA2):c.8817_8820del (p.Lys2939fs) rs397508010
NM_000987.5(RPL26):c.341del (p.Asp114fs) rs2151671987
NM_001355436.2(SPTB):c.4520G>T (p.Gly1507Val) rs2139530241
NM_001375808.2(LPIN2):c.10G>T (p.Val4Leu) rs2143203306
NM_002473.6(MYH9):c.5563C>T (p.Arg1855Trp) rs1436597250
NM_002485.5(NBN):c.93_94del (p.Ala32fs) rs864622253
NM_006846.4(SPINK5):c.964G>A (p.Asp322Asn) rs1561686908
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter) rs886039480
NM_032444.4(SLX4):c.2944G>T (p.Asp982Tyr) rs753733757
NM_139276.3(STAT3):c.1250G>T (p.Arg417Ile) rs2144767285
NM_152564.5(VPS13B):c.3397C>T (p.Pro1133Ser) rs781781537
NM_182916.3(TRNT1):c.811G>A (p.Ala271Thr) rs1553555777

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