ClinVar Miner

List of variants reported as uncertain significance for astrocytoma (excluding glioblastoma)

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_020975.6(RET):c.1344C>G (p.Asn448Lys) rs549907428 0.00011
NM_001281766.3(EPHA5):c.1043A>G (p.Asp348Gly) rs200932017 0.00004
NM_001374828.1(ARID1B):c.1000T>G (p.Cys334Gly) rs1276300860 0.00002
NM_000546.6(TP53):c.848G>A (p.Arg283His) rs371409680 0.00001
NM_023110.3(FGFR1):c.1711G>A (p.Glu571Lys) rs771720144 0.00001
NM_000368.5(TSC1):c.359T>C (p.Leu120Pro) rs1554820262
NM_001127222.2(CACNA1A):c.2582_2599del (p.Gln861_Asp866del) rs767951499
NM_001384732.1(CPLANE1):c.356A>G (p.Tyr119Cys) rs1738855611
NM_003482.4(KMT2D):c.15876G>C (p.Glu5292Asp) rs1365163460
NM_006015.6(ARID1A):c.48GCC[6] (p.Pro21dup) rs748085214
NM_023110.3(FGFR1):c.1179_2378dup (p.Val429_Asn763delinsGluSerArgTrpGlyIleCysThrLeuSerThrThrSerLeuSerGlyProLeuMetProCysProLeuHisCysProTer)
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_024675.4(PALB2):c.1478C>T (p.Pro493Leu) rs770965402
NM_177438.3(DICER1):c.3713T>C (p.Leu1238Pro) rs1060503603

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