ClinVar Miner

List of variants reported as not provided for lymphoid system disorder by GeneReviews

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 101
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082 0.49943
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458 0.45824
NM_000271.5(NPC1):c.1926= (p.Met642=) rs1788799 0.26043
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln) rs1805084 0.10225
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132 0.02791
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_001083116.3(PRF1):c.50del (p.Leu17fs) rs147035858 0.00100
NM_006949.4(STXBP2):c.568C>T (p.Arg190Cys) rs370053399 0.00041
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259 0.00025
NM_006949.4(STXBP2):c.1247-1G>C rs140148806 0.00024
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_199242.3(UNC13D):c.118-308C>T rs959968589 0.00021
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu) rs120074117 0.00010
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254 0.00006
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp) rs182812968 0.00004
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro) rs120074124 0.00004
NM_006949.4(STXBP2):c.194G>A (p.Arg65Gln) rs141717050 0.00004
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter) rs104894176 0.00003
NM_000081.4(LYST):c.3310C>T (p.Arg1104Ter) rs80338652 0.00001
NM_000271.5(NPC1):c.2324A>C (p.Gln775Pro) rs80358253 0.00001
NM_000271.5(NPC1):c.3160G>A (p.Ala1054Thr) rs80358258 0.00001
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr) rs80358252 0.00001
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr) rs120074126 0.00001
NM_001083116.3(PRF1):c.1090_1091del (p.Leu364fs) rs771552960 0.00001
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu) rs267606920 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_006432.5(NPC2):c.115G>A (p.Val39Met) rs80358261 0.00001
NM_006432.5(NPC2):c.141C>A (p.Cys47Ter) rs80358263 0.00001
NM_006432.5(NPC2):c.190+5G>A rs80358268 0.00001
NM_006432.5(NPC2):c.295T>C (p.Cys99Arg) rs80358264 0.00001
NM_006949.4(STXBP2):c.193C>T (p.Arg65Trp) rs758188545 0.00001
NM_199242.3(UNC13D):c.117+143A>G rs931794659 0.00001
NM_199242.3(UNC13D):c.1596+1G>C rs933702160 0.00001
NM_199242.3(UNC13D):c.754-1G>C rs753990040 0.00001
NC_000006.12:g.144176889_144196079del
NM_000041.4(APOE):c.497TCC[1] (p.Leu167del) rs515726148
NM_000081.2(LYST):c.7060_7066delCTATTAG rs80338661
NM_000081.3(LYST):c.9107_9162del (p.Gly3036Glufs)
NM_000081.4(LYST):c.10127A>G (p.Asn3376Ser) rs80338669
NM_000081.4(LYST):c.10395del (p.Gly3466fs) rs80338670
NM_000081.4(LYST):c.11102G>T (p.Cys3701Phe)
NM_000081.4(LYST):c.11173G>A (p.Gly3725Arg)
NM_000081.4(LYST):c.118dup (p.Ala40fs) rs80338642
NM_000081.4(LYST):c.1467del (p.Glu489fs) rs80338644
NM_000081.4(LYST):c.148C>T (p.Arg50Ter) rs80338643
NM_000081.4(LYST):c.1540C>T (p.Arg514Ter) rs80338645
NM_000081.4(LYST):c.1902dup (p.Ala635fs) rs80338646
NM_000081.4(LYST):c.2413del (p.Glu805fs) rs80338647
NM_000081.4(LYST):c.2454del (p.Ala819fs) rs80338648
NM_000081.4(LYST):c.2623del (p.Tyr875fs) rs80338649
NM_000081.4(LYST):c.3073_3074del (p.Asn1025fs) rs80338650
NM_000081.4(LYST):c.3085C>T (p.Gln1029Ter) rs80338651
NM_000081.4(LYST):c.3434dup (p.His1145fs)
NM_000081.4(LYST):c.3622C>T (p.Gln1208Ter)
NM_000081.4(LYST):c.3944dup (p.Val1316fs)
NM_000081.4(LYST):c.4052C>G (p.Ser1351Ter) rs80338654
NM_000081.4(LYST):c.4274del (p.Leu1425fs) rs80338656
NM_000081.4(LYST):c.4361C>A (p.Ala1454Asp) rs80338655
NM_000081.4(LYST):c.4688G>A (p.Arg1563His) rs80338657
NM_000081.4(LYST):c.5061T>A (p.Tyr1687Ter) rs80338658
NM_000081.4(LYST):c.5317del (p.Arg1773fs) rs80338659
NM_000081.4(LYST):c.5506C>T (p.Arg1836Ter)
NM_000081.4(LYST):c.5541_5542del (p.Arg1848fs)
NM_000081.4(LYST):c.5996T>A (p.Val1999Asp) rs28942077
NM_000081.4(LYST):c.6078C>A (p.Tyr2026Ter) rs80338660
NM_000081.4(LYST):c.7555del (p.Tyr2519fs) rs80338662
NM_000081.4(LYST):c.772T>C (p.Cys258Arg)
NM_000081.4(LYST):c.7982C>G (p.Ser2661Ter)
NM_000081.4(LYST):c.8281A>T (p.Arg2761Ter)
NM_000081.4(LYST):c.8428G>A (p.Glu2810Lys) rs80338663
NM_000081.4(LYST):c.8583G>A (p.Trp2861Ter) rs80338664
NM_000081.4(LYST):c.9228_9229insTTCTTTCAGT (p.Lys3077delinsPhePheGlnTer) rs80338666
NM_000081.4(LYST):c.925C>T (p.Arg309Ter)
NM_000081.4(LYST):c.9590del (p.Tyr3197fs) rs80338667
NM_000081.4(LYST):c.9827_9832del (p.Asn3276_Thr3277del)
NM_000081.4(LYST):c.9893del (p.Phe3298fs) rs80338668
NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg) rs80358254
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000543.5(SMPD1):c.1076C>A (p.Ala359Asp) rs797044800
NM_000543.5(SMPD1):c.1734G>C (p.Lys578Asn) rs747342458
NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del) rs120074118
NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro) rs797044797
NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro) rs797044798
NM_000543.5(SMPD1):c.874C>A (p.Gln292Lys) rs797044799
NM_000543.5(SMPD1):c.996del (p.Phe333fs) rs387906289
NM_002524.5(NRAS):c.101C>T (p.Pro34Leu) rs397514553
NM_002524.5(NRAS):c.149C>T (p.Thr50Ile) rs267606921
NM_002524.5(NRAS):c.71T>A (p.Ile24Asn) rs869025573
NM_002834.5(PTPN11):c.179_181del (p.Gly60del) rs80338836
NM_002834.5(PTPN11):c.181_183del (p.Asp61del) rs869025574
NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys) rs606231228
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004333.6(BRAF):c.722C>G (p.Thr241Arg) rs387906660
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_006432.5(NPC2):c.133C>T (p.Gln45Ter) rs80358262
NM_006432.5(NPC2):c.199T>C (p.Ser67Pro) rs11694
NM_006432.5(NPC2):c.27del (p.Leu10fs) rs80358267
NM_006432.5(NPC2):c.332del (p.Asn111fs) rs80358265
NM_006432.5(NPC2):c.352G>T (p.Glu118Ter) rs80358266
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter) rs80358260
NM_199242.3(UNC13D):c.118-307G>A rs1019391145

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.