ClinVar Miner

List of variants studied for central nervous system neoplasm by OMIM

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 103
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HGVS dbSNP gnomAD frequency
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_001933.5(DLST):c.1121G>A (p.Gly374Glu) rs1270341616 0.00003
NM_003000.3(SDHB):c.418G>T (p.Val140Phe) rs267607032 0.00003
NM_003000.3(SDHB):c.79C>T (p.Arg27Ter) rs74315369 0.00003
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter) rs781764920 0.00003
NM_003977.4(AIP):c.40C>T (p.Gln14Ter) rs104894194 0.00002
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp) rs387906780 0.00002
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) rs11554273 0.00001
NM_000516.7(GNAS):c.602G>A (p.Arg201His) rs121913495 0.00001
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) rs74315366 0.00001
NM_003000.3(SDHB):c.423+1G>A rs398122805 0.00001
NM_003000.3(SDHB):c.689G>A (p.Arg230His) rs587782604 0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His) rs74315368 0.00001
NM_003001.5(SDHC):c.405+1G>T rs587776653 0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) rs80338845 0.00001
NM_003977.4(AIP):c.910C>T (p.Arg304Ter) rs104894195 0.00001
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144 0.00001
NM_022124.6(CDH23):c.6344G>A (p.Arg2115His) rs1270566026 0.00001
NM_022124.6(CDH23):c.9886G>A (p.Asp3296Asn) rs372388344 0.00001
NC_000001.10:g.17375249_17390927del15679
NC_000001.10:g.17376556_17396932del20377
NC_000010.11:(102444036_?)_(?_104726221)del
NC_000011.9:g.(?_111957571)_(111966518_?)del
NM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter) rs80358785
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000268.4(NF2):c.169C>T (p.Arg57Ter) rs121434259
NM_000268.4(NF2):c.995del (p.Lys332fs) rs587776563
NM_000314.8(PTEN):c.701G>A (p.Arg234Gln) rs121909235
NM_000516.7(GNAS):c.680A>G (p.Gln227Arg) rs121913494
NM_000516.7(GNAS):c.681G>C (p.Gln227His) rs137854533
NM_000546.6(TP53):c.475_481dup (p.Ala161fs) rs863223301
NM_000546.6(TP53):c.854A>T (p.Glu285Val) rs121912667
NM_001035511.2(SDHC):c.*4656_*7660delinsGTCA
NM_001375883.1(GPR161):c.487_488del (p.Leu163fs) rs147891461
NM_001904.4(CTNNB1):c.98C>T (p.Ser33Phe) rs121913400
NM_002070.4(GNAI2):c.535C>G (p.Arg179Gly) rs137853226
NM_002608.4(PDGFB):c.602-1396_602-1262del
NM_003000.3(SDHB):c.(-151_-1)_(72+1_73-1)del
NM_003000.3(SDHB):c.136C>G (p.Arg46Gly) rs74315370
NM_003000.3(SDHB):c.201-4429_287-934del
NM_003000.3(SDHB):c.302G>A (p.Cys101Tyr) rs74315371
NM_003000.3(SDHB):c.395A>C (p.His132Pro) rs74315372
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg) rs74315367
NM_003000.3(SDHB):c.591del (p.Ser198fs) rs1060503757
NM_003000.3(SDHB):c.716_719del (p.Ser239fs) rs587781266
NM_003001.5(SDHC):c.3G>A (p.Met1Ile) rs587776652
NM_003002.4(SDHD):c.106C>T (p.Gln36Ter) rs104894303
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) rs80338843
NM_003002.4(SDHD):c.129G>A (p.Trp43Ter) rs104894308
NM_003002.4(SDHD):c.1A>G (p.Met1Val) rs104894307
NM_003002.4(SDHD):c.278_280del (p.Tyr93del) rs121908983
NM_003002.4(SDHD):c.305A>T (p.His102Leu) rs104894302
NM_003002.4(SDHD):c.337_338insT (p.Asp113fs) rs587776645
NM_003002.4(SDHD):c.337_340del (p.Asp113fs) rs587776648
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys) rs104894304
NM_003002.4(SDHD):c.3G>C (p.Met1Ile) rs80338842
NM_003002.4(SDHD):c.416T>C (p.Leu139Pro) rs80338847
NM_003002.4(SDHD):c.443del (p.Gly148fs) rs587776646
NM_003002.4(SDHD):c.463del (p.Met155fs) rs587776647
NM_003002.4(SDHD):c.52+2T>G rs587776644
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter) rs104894306
NM_003002.4(SDHD):c.94_95del (p.Ala33fs) rs397514034
NM_003002.4(SDHD):c.95C>A (p.Ser32Ter) rs104894305
NM_003072.5(SMARCA4):c.2617-3C>G rs587777463
NM_003072.5(SMARCA4):c.3239G>A (p.Gly1080Asp) rs587777464
NM_003072.5(SMARCA4):c.3533G>A (p.Trp1178Ter) rs587777460
NM_003072.5(SMARCA4):c.3565C>T (p.Arg1189Ter) rs267607070
NM_003072.5(SMARCA4):c.4170+1G>A rs587777461
NM_003072.5(SMARCA4):c.643C>T (p.Gln215Ter) rs587777462
NM_003079.5(SMARCE1):c.237+2T>C rs397509406
NM_003079.5(SMARCE1):c.311G>A (p.Trp104Ter) rs397509407
NM_003079.5(SMARCE1):c.572dup (p.Ala192fs) rs397509408
NM_003079.5(SMARCE1):c.715C>T (p.Arg239Ter) rs397509405
NM_003562.5(SLC25A11):c.107_108del (p.Thr36fs) rs1374026152
NM_003562.5(SLC25A11):c.421G>A (p.Glu141Lys) rs1567651815
NM_003562.5(SLC25A11):c.439A>G (p.Met147Val) rs1203876038
NM_003562.5(SLC25A11):c.708C>T (p.Ala236=) rs1567650874
NM_003562.5(SLC25A11):c.715C>A (p.Pro239Thr) rs1567650859
NM_003640.5(ELP1):c.138dup (p.Val47fs) rs1564110292
NM_003640.5(ELP1):c.312T>C (p.Cys104=) rs1291760879
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer) rs56126236
NM_003977.4(AIP):c.469-1G>A rs267606555
NM_003977.4(AIP):c.543del (p.Ile182fs) rs267606559
NM_003977.4(AIP):c.64C>T (p.Arg22Ter) rs121908357
NM_003977.4(AIP):c.66_71del (p.Gly23_Glu24del) rs267606567
NM_003977.4(AIP):c.804C>A (p.Tyr268Ter) rs121908356
NM_003977.4(AIP):c.824dup (p.His275fs) rs267606580
NM_005154.5(USP8):c.2152T>C (p.Ser718Pro) rs672601307
NM_005154.5(USP8):c.2152TCC[1] (p.Ser719del) rs672601306
NM_005154.5(USP8):c.2159C>G (p.Pro720Arg) rs672601311
NM_016169.4(SUFU):c.1022+1G>A rs587776578
NM_016169.4(SUFU):c.143dup (p.Pro49fs) rs1589970134
NM_016169.4(SUFU):c.367C>T (p.Arg123Cys) rs202247756
NM_016169.4(SUFU):c.44C>T (p.Pro15Leu) rs28942088
NM_016169.4(SUFU):c.71del (p.Pro24fs) rs587776579
NM_016169.4(SUFU):c.71dup (p.Ala25fs) rs587776579
NM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg) rs113560320
NM_022124.6(CDH23):c.4136G>T (p.Arg1379Leu) rs767004225
NM_022124.6(CDH23):c.9412C>T (p.Arg3138Trp) rs1052484950
NM_054021.2(GPR101):c.1098C>A (p.Asp366Glu) rs1556379508
NM_054021.2(GPR101):c.924G>C (p.Glu308Asp) rs73637412

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