ClinVar Miner

List of variants reported as likely pathogenic for central nervous system neoplasm by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (115):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 187
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HGVS dbSNP gnomAD frequency
NM_003000.3(SDHB):c.269G>A (p.Arg90Gln) rs570278423 0.00004
NM_003000.3(SDHB):c.650G>A (p.Arg217His) rs747518441 0.00003
NM_004168.4(SDHA):c.1741G>A (p.Gly581Arg) rs771111180 0.00003
NM_003000.3(SDHB):c.744C>G (p.Asn248Lys) rs1131691058 0.00001
NM_004168.4(SDHA):c.150+1G>A rs1057523165 0.00001
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp) rs9809219 0.00001
NM_004168.4(SDHA):c.1909-2A>G rs747939816 0.00001
NM_004168.4(SDHA):c.562C>T (p.Arg188Trp) rs553257776 0.00001
NM_004168.4(SDHA):c.778G>A (p.Gly260Arg) rs940845256 0.00001
NM_004168.4(SDHA):c.818C>T (p.Thr273Ile) rs587781720 0.00001
NM_004168.4(SDHA):c.923C>T (p.Thr308Met) rs1457666982 0.00001
NC_000001.10:g.(?_161310384)_(161310445_?)dup
NC_000001.10:g.(?_161326457)_(161326640_?)dup
NC_000001.10:g.(?_17349093)_(17350579_?)del
NC_000001.10:g.(?_17349097)_(17359646_?)dup
NC_000001.10:g.(?_17354234)_(17359650_?)dup
NC_000001.10:g.(?_17356590)_(17359633_?)del
NC_000001.10:g.(?_17359545)_(17359650_?)dup
NC_000001.10:g.(?_17371236)_(17371403_?)dup
NC_000001.10:g.(?_17371256)_(17371383_?)dup
NC_000001.11:g.(?_161340584)_(161340665_?)dup
NC_000010.10:g.(?_104352329)_(104377195_?)dup
NC_000019.9:g.(?_11168921)_(11169575_?)dup
NM_003000.2(SDHB):c.201-?_765+?dup
NM_003000.3(SDHB):c.120G>C (p.Lys40Asn) rs1570958090
NM_003000.3(SDHB):c.127G>C (p.Ala43Pro)
NM_003000.3(SDHB):c.200+5G>T rs1553178726
NM_003000.3(SDHB):c.203G>A (p.Cys68Tyr) rs587782904
NM_003000.3(SDHB):c.206G>T (p.Gly69Val) rs2101529108
NM_003000.3(SDHB):c.221A>G (p.Asp74Gly)
NM_003000.3(SDHB):c.258_260dup (p.Thr86_Leu87insPhe) rs2101528919
NM_003000.3(SDHB):c.269G>T (p.Arg90Leu) rs570278423
NM_003000.3(SDHB):c.278G>A (p.Cys93Tyr)
NM_003000.3(SDHB):c.286G>T (p.Gly96Cys) rs587782243
NM_003000.3(SDHB):c.287-10_295del
NM_003000.3(SDHB):c.289A>T (p.Ile97Phe) rs1553177769
NM_003000.3(SDHB):c.293G>A (p.Cys98Tyr) rs1553177768
NM_003000.3(SDHB):c.296G>A (p.Gly99Asp) rs878854576
NM_003000.3(SDHB):c.412G>T (p.Asp138Tyr) rs786203529
NM_003000.3(SDHB):c.540+1G>A rs1553177667
NM_003000.3(SDHB):c.540_540+13del rs1553177666
NM_003000.3(SDHB):c.566G>A (p.Cys189Tyr)
NM_003000.3(SDHB):c.567T>G (p.Cys189Trp) rs2101516550
NM_003000.3(SDHB):c.586T>C (p.Cys196Arg) rs2101516484
NM_003000.3(SDHB):c.589C>T (p.Pro197Ser) rs2077978300
NM_003000.3(SDHB):c.598T>C (p.Trp200Arg) rs1557739966
NM_003000.3(SDHB):c.641A>G (p.Gln214Arg) rs781590955
NM_003000.3(SDHB):c.642_642+6del rs876660368
NM_003000.3(SDHB):c.650G>T (p.Arg217Leu) rs747518441
NM_003000.3(SDHB):c.729C>G (p.Cys243Trp) rs2101513669
NM_003000.3(SDHB):c.73-1G>A rs1131691055
NM_003000.3(SDHB):c.73-1G>T rs1131691055
NM_003000.3(SDHB):c.73-2A>T rs1474282888
NM_003000.3(SDHB):c.756_765+4del rs1553177267
NM_003000.3(SDHB):c.780dup (p.Lys261fs) rs1557738304
NM_003000.3(SDHB):c.784_787dup (p.Ile263fs) rs1553176976
NM_003000.3(SDHB):c.785_786insG (p.Ile263fs) rs1553176979
NM_003001.5(SDHC):c.160C>A (p.Pro54Thr) rs1553262444
NM_003001.5(SDHC):c.171_179+15del rs1671156558
NM_003001.5(SDHC):c.179+1G>C rs1057517818
NM_003001.5(SDHC):c.179+1G>T rs1057517818
NM_003001.5(SDHC):c.179+2T>A
NM_003001.5(SDHC):c.180-2A>G rs1363265634
NM_003001.5(SDHC):c.20+1G>A
NM_003001.5(SDHC):c.20+1G>T rs1249046874
NM_003001.5(SDHC):c.224G>A (p.Gly75Asp) rs786205147
NM_003001.5(SDHC):c.2T>G (p.Met1Arg) rs1670517782
NM_003001.5(SDHC):c.379C>A (p.His127Asn) rs1485675090
NM_003001.5(SDHC):c.405+1del rs1558182956
NM_003001.5(SDHC):c.77+1G>A rs1558164647
NM_003001.5(SDHC):c.78-1G>T rs786202200
NM_003001.5(SDHC):c.78-2A>G
NM_003002.4(SDHD):c.394del (p.Ser132fs) rs1060503773
NM_003002.4(SDHD):c.53-1_53delinsTT rs1566691921
NM_003072.5(SMARCA4):c.1101_1119-550del rs2086204386
NM_003072.5(SMARCA4):c.1119-2A>C rs1568430280
NM_003072.5(SMARCA4):c.1245+1G>A
NM_003072.5(SMARCA4):c.1813-1G>C
NM_003072.5(SMARCA4):c.1943+1G>A rs2087817491
NM_003072.5(SMARCA4):c.2002-1G>A rs2146189762
NM_003072.5(SMARCA4):c.2002-2A>G rs1568462513
NM_003072.5(SMARCA4):c.2124-2A>G rs2088710706
NM_003072.5(SMARCA4):c.2194T>C (p.Tyr732His)
NM_003072.5(SMARCA4):c.2195A>G (p.Tyr732Cys)
NM_003072.5(SMARCA4):c.2263A>G (p.Lys755Glu) rs2146238910
NM_003072.5(SMARCA4):c.2274+1G>C rs867740591
NM_003072.5(SMARCA4):c.2274+1G>T
NM_003072.5(SMARCA4):c.2350G>T (p.Gly784Trp) rs2146279050
NM_003072.5(SMARCA4):c.2438+1G>A rs1555774786
NM_003072.5(SMARCA4):c.2503_2505+6del
NM_003072.5(SMARCA4):c.2617-1G>A rs1600277713
NM_003072.5(SMARCA4):c.2681C>G (p.Thr894Arg)
NM_003072.5(SMARCA4):c.2837C>G (p.Pro946Arg) rs1555778830
NM_003072.5(SMARCA4):c.2852G>C (p.Gly951Ala)
NM_003072.5(SMARCA4):c.2860-1G>A rs1060502102
NM_003072.5(SMARCA4):c.2860-2A>G rs2146451944
NM_003072.5(SMARCA4):c.2974-2A>G rs2146471651
NM_003072.5(SMARCA4):c.3081+1G>T rs1600301361
NM_003072.5(SMARCA4):c.3095C>A (p.Thr1032Asn)
NM_003072.5(SMARCA4):c.3422_3427delinsTCTTCT (p.Thr1141_Asn1143delinsIlePheTyr) rs2074872521
NM_003072.5(SMARCA4):c.3469C>T (p.Arg1157Trp)
NM_003072.5(SMARCA4):c.3546+1G>A rs2146603666
NM_003072.5(SMARCA4):c.3546+2T>C
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val) rs1600388982
NM_003072.5(SMARCA4):c.356-2A>G
NM_003072.5(SMARCA4):c.3774+2T>A rs1475054297
NM_003072.5(SMARCA4):c.3774+2T>C rs1475054297
NM_003072.5(SMARCA4):c.3951+2T>C rs1555785056
NM_003072.5(SMARCA4):c.3952-1G>A rs1600405252
NM_003072.5(SMARCA4):c.3952-2A>G rs1308562238
NM_003072.5(SMARCA4):c.4471C>T (p.Arg1491Ter) rs758517117
NM_003072.5(SMARCA4):c.4636-1G>A rs1290351732
NM_003072.5(SMARCA4):c.4769-2A>G
NM_003072.5(SMARCA4):c.761-2A>T rs1479379455
NM_003072.5(SMARCA4):c.859+1G>T rs2145798387
NM_003072.5(SMARCA4):c.87_222+48del rs2145722767
NM_003079.5(SMARCE1):c.301G>A (p.Gly101Ser)
NM_003079.5(SMARCE1):c.369+1G>A rs2037146593
NM_003079.5(SMARCE1):c.369+1G>T rs2037146593
NM_003079.5(SMARCE1):c.369+2_369+5del rs2143997220
NM_003079.5(SMARCE1):c.541+1G>A rs1597746020
NM_003079.5(SMARCE1):c.542-2A>G rs2143988635
NM_003079.5(SMARCE1):c.714+1G>A rs2143988221
NM_003079.5(SMARCE1):c.817-2A>G rs2143985266
NM_004168.4(SDHA):c.1064+1G>T rs1579402807
NM_004168.4(SDHA):c.1064+2T>A rs1553999072
NM_004168.4(SDHA):c.1064+2T>C
NM_004168.4(SDHA):c.1064+2T>G rs1553999072
NM_004168.4(SDHA):c.1260+1G>A rs1735710012
NM_004168.4(SDHA):c.1260+2T>A rs1735710103
NM_004168.4(SDHA):c.1261-1G>A rs1735779936
NM_004168.4(SDHA):c.1261-2A>G rs1579409293
NM_004168.4(SDHA):c.1304T>G (p.Leu435Arg) rs1579409500
NM_004168.4(SDHA):c.1334C>T (p.Ser445Leu) rs1296066077
NM_004168.4(SDHA):c.1351C>T (p.Arg451Cys) rs1553999752
NM_004168.4(SDHA):c.1432+1G>A
NM_004168.4(SDHA):c.1432+1G>C rs878854628
NM_004168.4(SDHA):c.1432+1G>T rs878854628
NM_004168.4(SDHA):c.1433-2A>G
NM_004168.4(SDHA):c.150+1G>C rs1057523165
NM_004168.4(SDHA):c.150_150+1delinsTA rs2126539987
NM_004168.4(SDHA):c.151-1G>C rs1458851277
NM_004168.4(SDHA):c.151-2A>G
NM_004168.4(SDHA):c.1551+1G>A rs759806010
NM_004168.4(SDHA):c.1552-1G>C
NM_004168.4(SDHA):c.1571C>T (p.Ala524Val) rs137852767
NM_004168.4(SDHA):c.1663+1G>A rs766667009
NM_004168.4(SDHA):c.1664-1G>A
NM_004168.4(SDHA):c.1664-2A>G rs2126633124
NM_004168.4(SDHA):c.1765C>G (p.Arg589Gly) rs387906780
NM_004168.4(SDHA):c.1766G>A (p.Arg589Gln) rs763766162
NM_004168.4(SDHA):c.1769del (p.Gly590fs) rs1554001958
NM_004168.4(SDHA):c.1773_1774dup (p.His592fs) rs1561010948
NM_004168.4(SDHA):c.1794+1G>A rs876659595
NM_004168.4(SDHA):c.1795-1G>T rs778516878
NM_004168.4(SDHA):c.1909-1G>A rs1159597886
NM_004168.4(SDHA):c.284C>G (p.Pro95Arg) rs1553997377
NM_004168.4(SDHA):c.312+1G>A rs2126543441
NM_004168.4(SDHA):c.456+1G>A rs1579384604
NM_004168.4(SDHA):c.456+1G>T rs1579384604
NM_004168.4(SDHA):c.621+1G>A rs1735002961
NM_004168.4(SDHA):c.622-1G>A rs1285132774
NM_004168.4(SDHA):c.63+2del rs1579369969
NM_004168.4(SDHA):c.64-2A>C
NM_004168.4(SDHA):c.769_770+77del
NM_004168.4(SDHA):c.771-1G>C rs1735353141
NM_004168.4(SDHA):c.778G>C (p.Gly260Arg) rs940845256
NM_004168.4(SDHA):c.895+1del rs2126568833
NM_004168.4(SDHA):c.895+2T>C
NM_004168.4(SDHA):c.896-2A>G
NM_004168.4(SDHA):c.896-2del
NM_016169.4(SUFU):c.1023-2A>T rs1060501105
NM_016169.4(SUFU):c.1157+1G>A
NM_016169.4(SUFU):c.1365+1G>A rs2063794106
NM_016169.4(SUFU):c.182+1G>A rs2135598885
NM_016169.4(SUFU):c.182+3A>C rs1589970228
NM_016169.4(SUFU):c.183-1G>A rs1554841447
NM_016169.4(SUFU):c.183-1G>T
NM_016169.4(SUFU):c.183-2A>C rs2135619894
NM_016169.4(SUFU):c.183-4_247del
NM_016169.4(SUFU):c.317+1G>A rs2135621012
NM_016169.4(SUFU):c.318-1G>C rs2135742927
NM_016169.4(SUFU):c.597+1G>C rs1590062006
NM_016169.4(SUFU):c.683+1G>A rs2135870923
NM_016169.4(SUFU):c.684-2A>G rs1590063305
NM_016169.4(SUFU):c.911-1G>T
NM_016169.4(SUFU):c.911-2A>C

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