ClinVar Miner

List of variants studied for lymphoid system disorder by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 98
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala) rs147756847 0.00416
NM_000081.4(LYST):c.7870C>T (p.Arg2624Trp) rs150306354 0.00280
NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys) rs34702903 0.00276
NM_000081.4(LYST):c.2363+4T>C rs201398337 0.00252
NM_001083116.3(PRF1):c.10C>T (p.Arg4Cys) rs12161733 0.00220
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311 0.00213
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val) rs142025324 0.00182
NM_000081.4(LYST):c.3683A>G (p.Asn1228Ser) rs145553827 0.00171
NM_199242.3(UNC13D):c.227C>T (p.Thr76Met) rs78028658 0.00153
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro) rs138443479 0.00148
NM_018344.6(SLC29A3):c.946T>G (p.Phe316Val) rs139066012 0.00076
NM_199242.3(UNC13D):c.1772C>T (p.Pro591Leu) rs144852879 0.00073
NM_199242.3(UNC13D):c.2710-8C>G rs545824447 0.00057
NM_000081.4(LYST):c.8806G>A (p.Val2936Ile) rs2753327 0.00052
NM_001291303.3(FAT4):c.185G>C (p.Gly62Ala) rs201009019 0.00045
NM_006949.4(STXBP2):c.568C>T (p.Arg190Cys) rs370053399 0.00041
NM_000081.4(LYST):c.2946T>C (p.Tyr982=) rs145892183 0.00034
NM_199242.3(UNC13D):c.972C>T (p.Asp324=) rs368990813 0.00029
NM_003664.5(AP3B1):c.1022G>A (p.Arg341His) rs141832130 0.00023
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln) rs182849552 0.00022
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val) rs200786705 0.00019
NM_001291303.3(FAT4):c.10643A>G (p.Tyr3548Cys) rs79726583 0.00015
NM_018344.6(SLC29A3):c.269C>T (p.Thr90Ile) rs138389471 0.00013
NM_001291303.3(FAT4):c.9451G>A (p.Ala3151Thr) rs200702071 0.00011
NM_000081.4(LYST):c.8779A>T (p.Ile2927Phe) rs554841002 0.00010
NM_000081.4(LYST):c.281C>T (p.Thr94Ile) rs777389303 0.00009
NM_001291303.3(FAT4):c.7312G>T (p.Val2438Phe) rs376545643 0.00009
NM_018344.6(SLC29A3):c.1124A>G (p.Asn375Ser) rs150398575 0.00006
NM_199242.3(UNC13D):c.2044C>T (p.Arg682Cys) rs755931780 0.00006
NM_000081.4(LYST):c.6185G>A (p.Gly2062Glu) rs756651685 0.00004
NM_001083116.3(PRF1):c.65C>T (p.Pro22Leu) rs528937278 0.00004
NM_003664.5(AP3B1):c.3254G>A (p.Arg1085Gln) rs151028592 0.00004
NM_001321396.3(IKBKG):c.-16+3G>A rs782367664 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_183235.3(RAB27A):c.11G>T (p.Gly4Val) rs539575657 0.00003
NM_199242.3(UNC13D):c.3134C>T (p.Thr1045Met) rs201146973 0.00003
NM_003664.5(AP3B1):c.1412T>A (p.Met471Lys) rs771964089 0.00002
NM_133459.4(CCBE1):c.664C>T (p.Leu222Phe) rs770685560 0.00002
NM_001291303.3(FAT4):c.8216C>A (p.Ser2739Tyr) rs748854090 0.00001
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu) rs267606920 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_002880.4(RAF1):c.31A>T (p.Ile11Phe) rs779001930 0.00001
NM_003664.5(AP3B1):c.1311A>T (p.Glu437Asp) rs1160297829 0.00001
NM_003664.5(AP3B1):c.2890T>C (p.Leu964=) rs750377910 0.00001
NM_005045.4(RELN):c.10292G>A (p.Arg3431His) rs1442266027 0.00001
NM_005045.4(RELN):c.1532C>T (p.Thr511Ile) rs372928932 0.00001
NM_005045.4(RELN):c.5300G>A (p.Gly1767Glu) rs766384576 0.00001
NM_006949.4(STXBP2):c.1225C>T (p.Leu409Phe) rs763024326 0.00001
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys) rs1426175410 0.00001
NM_032638.5(GATA2):c.208G>T (p.Val70Phe) rs570531959 0.00001
NM_033360.4(KRAS):c.112-5C>T rs376520586 0.00001
NM_133459.4(CCBE1):c.260C>A (p.Pro87Gln) rs756973760 0.00001
NM_000081.4(LYST):c.11167G>T (p.Ala3723Ser)
NM_000081.4(LYST):c.11392T>C (p.Tyr3798His)
NM_000081.4(LYST):c.1829A>T (p.His610Leu)
NM_000081.4(LYST):c.2768C>T (p.Ser923Leu)
NM_000081.4(LYST):c.3203A>G (p.Gln1068Arg)
NM_000081.4(LYST):c.3536A>G (p.Asn1179Ser)
NM_000081.4(LYST):c.3940-17dup
NM_000081.4(LYST):c.6142A>G (p.Lys2048Glu)
NM_000081.4(LYST):c.7647G>A (p.Gln2549=)
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) rs121918453
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val) rs397507531
NM_002880.4(RAF1):c.1193G>T (p.Arg398Leu) rs730880382
NM_002880.4(RAF1):c.161C>A (p.Thr54Lys) rs754798801
NM_002880.4(RAF1):c.505G>C (p.Gly169Arg) rs886039607
NM_003664.5(AP3B1):c.2769A>C (p.Lys923Asn) rs201179527
NM_004333.6(BRAF):c.1897T>C (p.Tyr633His) rs746010267
NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp) rs727502904
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004444.5(EPHB4):c.250G>A (p.Val84Ile)
NM_004444.5(EPHB4):c.2567G>A (p.Cys856Tyr) rs1584653005
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_005045.4(RELN):c.381T>C (p.Ser127=)
NM_005045.4(RELN):c.5211-7T>G rs760447914
NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del) rs762015967
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg) rs397517148
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_005633.4(SOS1):c.1379A>G (p.His460Arg)
NM_005633.4(SOS1):c.1430A>G (p.Gln477Arg) rs730881044
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.3391+5G>C rs1668654438
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006939.4(SOS2):c.2220A>T (p.Gln740His) rs576277421
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)
NM_012388.4(BLOC1S6):c.461G>A (p.Arg154Gln) rs145937442
NM_172071.4(RC3H1):c.437T>C (p.Val146Ala)
NM_199242.3(UNC13D):c.1340T>G (p.Leu447Arg) rs1333471306

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.