ClinVar Miner

List of variants studied for central nervous system neoplasm by Genome Sciences Centre, British Columbia Cancer Agency

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000791.4(DHFR):c.-416C>G rs2001675 0.00949
NM_032221.5(CHD6):c.3296G>A (p.Arg1099Gln) rs1465002801 0.00001
NM_000489.6(ATRX):c.4213A>G (p.Arg1405Gly) rs1569535987
NM_001130823.3(DNMT1):c.1645-1G>T rs1568234664
NM_001386298.1(CIC):c.3017_3018insT (p.Gly1008fs) rs1568503055
NM_001386298.1(CIC):c.3370C>T (p.Arg1124Trp) rs1568504941
NM_003482.4(KMT2D):c.11047C>T (p.Gln3683Ter) rs1565779530
inv(22)(q12.2q12.2)
t(5;22)(q31.2;q12.1)

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