ClinVar Miner

List of variants studied for hematologic disorder by New York Genome Center

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 133
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_001364905.1(LRBA):c.2674G>A (p.Ala892Thr) rs151098394 0.00465
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_020661.4(AICDA):c.299G>C (p.Gly100Ala) rs201210527 0.00138
NM_020661.4(AICDA):c.427+4C>T rs201180477 0.00130
NM_001006658.3(CR2):c.1140G>A (p.Met380Ile) rs147638245 0.00116
NM_001002010.5(NT5C3A):c.325A>C (p.Lys109Gln) rs144452782 0.00113
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00111
NM_020070.4(IGLL1):c.616A>T (p.Thr206Ser) rs139491925 0.00106
NM_001081.4(CUBN):c.10002G>C (p.Gln3334His) rs147330179 0.00104
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_001805.4(CEBPE):c.842G>A (p.Ser281Asn) rs149444043 0.00076
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00068
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00068
NM_203447.4(DOCK8):c.3023G>A (p.Arg1008Gln) rs145844320 0.00064
NM_203447.4(DOCK8):c.494C>T (p.Ser165Leu) rs146490788 0.00061
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu) rs141046414 0.00054
NM_203447.4(DOCK8):c.3312G>C (p.Glu1104Asp) rs138810908 0.00054
NM_152564.5(VPS13B):c.983A>G (p.His328Arg) rs181625846 0.00053
NM_001386140.1(MTTP):c.1874C>T (p.Pro625Leu) rs146045390 0.00049
NM_012452.3(TNFRSF13B):c.604C>T (p.Arg202Cys) rs143562358 0.00036
NM_013314.4(BLNK):c.94A>T (p.Ile32Leu) rs191065660 0.00029
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_152564.5(VPS13B):c.2356A>G (p.Ile786Val) rs202052403 0.00028
NM_001783.4(CD79A):c.134G>C (p.Ser45Thr) rs199603062 0.00024
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_152564.5(VPS13B):c.2377C>G (p.Leu793Val) rs141638933 0.00020
NM_001081.4(CUBN):c.8084G>A (p.Gly2695Asp) rs142667203 0.00018
NM_152564.5(VPS13B):c.3083-8G>A rs201973611 0.00014
NM_012452.3(TNFRSF13B):c.58C>T (p.Arg20Cys) rs200013015 0.00012
NM_152564.5(VPS13B):c.11312C>T (p.Ser3771Leu) rs142516047 0.00012
NM_152564.5(VPS13B):c.2847A>G (p.Ile949Met) rs398124331 0.00009
NM_006060.6(IKZF1):c.1076C>T (p.Pro359Leu) rs752909152 0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln) rs121918243 0.00007
NM_001018115.3(FANCD2):c.2345T>C (p.Met782Thr) rs760428640 0.00006
NM_152564.5(VPS13B):c.2473G>A (p.Ala825Thr) rs148788159 0.00005
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_001375834.1(WIPF1):c.841G>C (p.Ala281Pro) rs201094141 0.00004
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys) rs372321643 0.00004
NM_001386140.1(MTTP):c.501+8C>T rs773537875 0.00004
NM_005334.3(HCFC1):c.3730C>T (p.Arg1244Cys) rs782155408 0.00004
NM_012388.4(BLOC1S6):c.47C>T (p.Pro16Leu) rs1042113102 0.00004
NM_032444.4(SLX4):c.5177C>T (p.Ala1726Val) rs752633436 0.00004
NM_152564.5(VPS13B):c.1825T>C (p.Tyr609His) rs138171489 0.00004
NM_152564.5(VPS13B):c.5617G>A (p.Glu1873Lys) rs774677234 0.00004
NM_152564.5(VPS13B):c.1888G>A (p.Ala630Thr) rs768721417 0.00003
NM_152564.5(VPS13B):c.4676G>T (p.Gly1559Val) rs578203757 0.00003
NM_001386140.1(MTTP):c.1391C>A (p.Ala464Glu) rs756155398 0.00002
NM_002296.4(LBR):c.1757G>A (p.Arg586His) rs573510559 0.00002
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter) rs140353201 0.00002
NM_000254.3(MTR):c.1812+1G>A rs778242201 0.00001
NM_000631.5(NCF4):c.407C>T (p.Ser136Leu) rs749322339 0.00001
NM_001386140.1(MTTP):c.1325A>G (p.Asn442Ser) rs368711749 0.00001
NM_002184.4(IL6ST):c.2447A>G (p.Lys816Arg) rs765498089 0.00001
NM_002393.5(MDM4):c.1045A>G (p.Ile349Val) rs1346731264 0.00001
NM_002473.6(MYH9):c.3193G>A (p.Ala1065Thr) rs1423642805 0.00001
NM_003200.5(TCF3):c.107G>A (p.Arg36Gln) rs1011180356 0.00001
NM_003998.4(NFKB1):c.482C>T (p.Ala161Val) rs1354534120 0.00001
NM_005334.3(HCFC1):c.503+6G>A rs1048267564 0.00001
NM_006846.4(SPINK5):c.1415T>C (p.Met472Thr) rs762735202 0.00001
NM_032444.4(SLX4):c.4096C>T (p.Arg1366Cys) rs368434737 0.00001
NM_152564.5(VPS13B):c.11180G>A (p.Arg3727Gln) rs913075497 0.00001
NM_152564.5(VPS13B):c.11205C>G (p.Ile3735Met) rs1359351082 0.00001
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356 0.00001
NM_152564.5(VPS13B):c.2180A>G (p.His727Arg) rs1436936380 0.00001
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp) rs780598553 0.00001
NM_152564.5(VPS13B):c.8238G>C (p.Leu2746Phe) rs1016035749 0.00001
NM_181523.3(PIK3R1):c.917-4792G>A rs1747126586 0.00001
NM_198253.3(TERT):c.2655-47_2659dup rs1561193114 0.00001
G6PD A-
NM_000057.4(BLM):c.772_773del (p.Leu258fs) rs367543013
NM_000081.4(LYST):c.6673C>T (p.Arg2225Cys)
NM_000132.4(F8):c.6532C>T (p.Arg2178Cys) rs137852464
NM_000136.3(FANCC):c.686+5G>A rs1064794691
NM_000254.3(MTR):c.2249T>C (p.Phe750Ser) rs1664588529
NM_000313.4(PROS1):c.601+1G>A rs1708665916
NM_000397.4(CYBB):c.728T>C (p.Val243Ala)
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000821.7(GGCX):c.973dup (p.Arg325fs) rs768019203
NM_000892.5(KLKB1):c.-2+1G>C rs954965096
NM_001006658.3(CR2):c.2975A>G (p.Tyr992Cys) rs1658485394
NM_001081.4(CUBN):c.3605C>T (p.Ala1202Val) rs1835097031
NM_001081.4(CUBN):c.6254A>G (p.Asn2085Ser) rs569527072
NM_001142864.4(PIEZO1):c.7367G>C (p.Arg2456Pro)
NM_001360016.2(G6PD):c.72T>A (p.Asp24Glu) rs1557233192
NM_001364905.1(LRBA):c.4111G>A (p.Ala1371Thr) rs761120687
NM_001364905.1(LRBA):c.6331-14021C>T rs2152122101
NM_001386140.1(MTTP):c.1139A>T (p.Asp380Val)
NM_001386140.1(MTTP):c.2011C>A (p.Leu671Met)
NM_001386140.1(MTTP):c.2663G>A (p.Ser888Asn)
NM_002454.3(MTRR):c.1977T>G (p.Asp659Glu) rs751318676
NM_002473.6(MYH9):c.2161_2165del
NM_002473.6(MYH9):c.2810AGA[3] (p.Lys940del) rs1353636692
NM_002658.6(PLAU):c.467dup (p.Pro157fs) rs1435611170
NM_003126.4(SPTA1):c.3331G>A (p.Asp1111Asn) rs760205675
NM_003200.5(TCF3):c.955+204G>A rs372121697
NM_004991.4(MECOM):c.375+7162G>T
NM_005026.5(PIK3CD):c.2764A>C (p.Lys922Gln) rs2101002894
NM_005334.3(HCFC1):c.3257G>A (p.Gly1086Asp) rs2065362050
NM_006060.6(IKZF1):c.161-15019A>G rs1805227150
NM_006846.4(SPINK5):c.1280del (p.Ser427fs) rs1753640069
NM_006846.4(SPINK5):c.899A>G (p.Tyr300Cys) rs2113105257
NM_012452.3(TNFRSF13B):c.788C>T (p.Thr263Ile) rs986325158
NM_015175.3(NBEAL2):c.368C>G (p.Pro123Arg) rs371460227
NM_020070.4(IGLL1):c.178C>G (p.Arg60Gly) rs146108390
NM_020070.4(IGLL1):c.594C>A (p.His198Gln) rs1064418
NM_020207.7(ERCC6L2):c.789-6_789-3del rs754561683
NM_152564.5(VPS13B):c.-30+5G>A
NM_152564.5(VPS13B):c.10514G>T (p.Arg3505Leu) rs770999005
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs) rs786204456
NM_152564.5(VPS13B):c.1595G>T (p.Arg532Leu)
NM_152564.5(VPS13B):c.1657A>G (p.Thr553Ala) rs2132580942
NM_152564.5(VPS13B):c.1769C>T (p.Ala590Val) rs182397346
NM_152564.5(VPS13B):c.2258A>G (p.Tyr753Cys)
NM_152564.5(VPS13B):c.2522A>G (p.Lys841Arg) rs1376390404
NM_152564.5(VPS13B):c.5220+20875C>A
NM_152564.5(VPS13B):c.5221-24871G>T rs944094510
NM_152564.5(VPS13B):c.5520G>T (p.Lys1840Asn) rs2133931905
NM_152564.5(VPS13B):c.6529C>T (p.Arg2177Cys) rs756143690
NM_152564.5(VPS13B):c.7050+2243A>G
NM_152564.5(VPS13B):c.7334G>C (p.Cys2445Ser)
NM_152564.5(VPS13B):c.7941+6T>C
NM_152564.5(VPS13B):c.8254G>C (p.Glu2752Gln)
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs) rs759536357
NM_152564.5(VPS13B):c.9607T>C (p.Cys3203Arg) rs781004616
NM_152703.5(SAMD9L):c.2052A>C (p.Glu684Asp) rs1792278396
NM_181523.3(PIK3R1):c.1670G>A (p.Arg557Gln) rs2112275807

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