ClinVar Miner

List of variants reported as not provided by Children's Cancer Therapy Development Institute

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_002139.4(RBMX):c.-1del rs201673579 0.00508
NM_007153.3(ZNF208):c.3843G>C (p.Ter1281Tyr) rs747779872 0.00202
NM_177987.3(TUBB8):c.843C>G (p.Tyr281Ter) rs200311430 0.00019
NM_001393982.1(ANKRD36C):c.1633+1G>A rs780640771 0.00002
NM_000173.7(GP1BA):c.1311_1349del (p.415_427SEPAPSPTTPEPT[2]) rs770991996
NM_000670.5(ADH4):c.51dup (p.Ala18fs) rs1579406737
NM_001009899.4(USF3):c.3047dup (p.Asn1016fs) rs78597857
NM_001079935.2(OR7E24):c.32dup (p.Leu12fs) rs201985790
NM_001892.6(CSNK1A1):c.*1105_*1108del rs149346325
NM_002139.4(RBMX):c.866-2_866-1insTATGAGAGTTAT rs1256966146
NM_002568.4(PABPC1):c.*2-1_*2insCCACTGGTGTTCCAACTGTTTAAA rs1587140774
NM_003870.4(IQGAP1):c.650-14_650-13insA rs752632457
NM_004477.3(FRG1):c.317+1G>T rs770433406
NM_005190.4(CCNC):c.346+77dup rs761291714
NM_016131.5(RAB10):c.189-1G>T rs1574556310
NM_021239.3(RBM25):c.-16+6264dup rs1270253792
NM_025235.4(TNKS2):c.1865dup (p.Asn622fs) rs749004712
NM_152450.3(FAM81A):c.651-3dup rs747487795

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