ClinVar Miner

List of variants reported as likely pathogenic for brain neoplasm by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter) rs376078668 0.00004
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter) rs1344509500 0.00003
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_003640.5(ELP1):c.1361-1G>T rs372225464 0.00001
NM_003640.5(ELP1):c.2824C>T (p.Arg942Ter) rs761911009 0.00001
NM_003640.5(ELP1):c.3595A>T (p.Lys1199Ter) rs762224071 0.00001
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253 0.00001
NM_000059.4(BRCA2):c.15del (p.Glu7fs) rs1064795072
NM_000059.4(BRCA2):c.1889del (p.Thr630fs) rs80359315
NM_000059.4(BRCA2):c.574_575del (p.Met192fs) rs80359533
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_003640.5(ELP1):c.1461-1G>T rs539544212
NM_003640.5(ELP1):c.1854+1G>A rs1554696934
NM_003640.5(ELP1):c.2322_2325del (p.Asp775fs) rs1341613149
NM_003640.5(ELP1):c.304-2A>G rs757972943
NM_003640.5(ELP1):c.3382_3385del (p.Thr1128fs) rs769748960
NM_003640.5(ELP1):c.3790C>T (p.Gln1264Ter) rs1827767235
NM_003640.5(ELP1):c.3831_3834del (p.Tyr1278fs) rs1446325480
NM_022124.6(CDH23):c.1143_1176del rs764949139
NM_022124.6(CDH23):c.4105-4_4105-2delinsTCT rs1589384283

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