ClinVar Miner

List of variants reported as pathogenic for central nervous system neoplasm by Baylor Genetics

Included ClinVar conditions (109):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270 0.00016
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00010
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) rs756147087 0.00009
NM_022124.6(CDH23):c.336+1G>A rs764824311 0.00007
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser) rs780987516 0.00006
NM_022124.6(CDH23):c.6050-9G>A rs367928692 0.00006
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter) rs397517329 0.00004
NM_022124.6(CDH23):c.6337C>T (p.Gln2113Ter) rs771210121 0.00002
NM_022124.6(CDH23):c.2177-2A>G rs1377982927 0.00001
NM_022124.6(CDH23):c.2289+1G>A rs769433759 0.00001
NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn) rs771766431 0.00001
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683 0.00001
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253 0.00001
NM_022124.6(CDH23):c.6319C>T (p.Arg2107Ter) rs1306728898 0.00001
NM_022124.6(CDH23):c.6696del (p.Ala2232_Val2233insTer) rs1278603247 0.00001
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu) rs121908354 0.00001
NM_022124.6(CDH23):c.7362+5G>A rs727502931 0.00001
NM_022124.6(CDH23):c.8803C>T (p.Arg2935Ter) rs1190307769 0.00001
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln) rs121908355 0.00001
NM_000314.8(PTEN):c.492+1G>T rs1554898242
NM_003072.5(SMARCA4):c.2932C>T (p.Arg978Ter) rs1064796254
NM_003072.5(SMARCA4):c.3480dup (p.Leu1161fs) rs797045982
NM_003072.5(SMARCA4):c.3565C>T (p.Arg1189Ter) rs267607070
NM_003977.4(AIP):c.804C>A (p.Tyr268Ter) rs121908356
NM_016169.4(SUFU):c.71dup (p.Ala25fs) rs587776579
NM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg) rs113560320
NM_022124.6(CDH23):c.1087del (p.Val363fs) rs747955135
NM_022124.6(CDH23):c.2206C>T (p.Arg736Ter) rs1230303971
NM_022124.6(CDH23):c.3241C>T (p.Arg1081Ter) rs866435331
NM_022124.6(CDH23):c.3481C>T (p.Arg1161Ter) rs397517323
NM_022124.6(CDH23):c.3655C>T (p.Arg1219Ter) rs2132820264
NM_022124.6(CDH23):c.3706C>T (p.Arg1236Ter) rs397517327
NM_022124.6(CDH23):c.3862C>T (p.Gln1288Ter)
NM_022124.6(CDH23):c.4209+1G>T rs727503841
NM_022124.6(CDH23):c.4488G>C (p.Gln1496His) rs121908347
NM_022124.6(CDH23):c.4759_4766del (p.Thr1587fs) rs759981467
NM_022124.6(CDH23):c.5147A>C (p.Gln1716Pro) rs758382198
NM_022124.6(CDH23):c.5712+1G>A rs397517341
NM_022124.6(CDH23):c.6133G>A (p.Asp2045Asn) rs121908348
NM_022124.6(CDH23):c.6307G>T (p.Glu2103Ter) rs1397549896
NM_022124.6(CDH23):c.6346_6347del (p.Phe2116fs)
NM_022124.6(CDH23):c.6393del (p.Ile2132fs) rs754876029
NM_022124.6(CDH23):c.6517G>T (p.Glu2173Ter)
NM_022124.6(CDH23):c.6620del (p.Leu2207fs)
NM_022124.6(CDH23):c.6968del (p.Pro2323fs) rs397517350
NM_022124.6(CDH23):c.7101G>A (p.Trp2367Ter)
NM_022124.6(CDH23):c.7210C>T (p.Gln2404Ter) rs2132968121
NM_022124.6(CDH23):c.7872G>A (p.Glu2624=) rs1292050472
NM_022124.6(CDH23):c.7908C>A (p.Tyr2636Ter)
NM_022124.6(CDH23):c.7908C>G (p.Tyr2636Ter) rs878853337
NM_022124.6(CDH23):c.8054_8055del (p.Ala2685fs) rs2132984089
NM_022124.6(CDH23):c.8432G>A (p.Trp2811Ter) rs1841773052
NM_022124.6(CDH23):c.9284dup (p.Arg3096fs) rs1564808024
NM_022124.6(CDH23):c.9319+1G>T
NM_022124.6(CDH23):c.945+1G>T rs727502919
NM_022124.6(CDH23):c.9489G>A (p.Trp3163Ter)
NM_022124.6(CDH23):c.9629_9632del (p.Ile3210fs) rs397517367
NM_022124.6(CDH23):c.9658del (p.Glu3220fs) rs922700209

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