ClinVar Miner

List of variants reported as uncertain significance for central nervous system organ benign neoplasm

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001146079.2(CLDN14):c.185A>G (p.Tyr62Cys) rs148223897 0.00048
NM_004716.4(PCSK7):c.1678C>G (p.Arg560Gly) rs202038275 0.00023
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln) rs145704867 0.00014
NM_000546.6(TP53):c.460G>A (p.Gly154Ser) rs137852789 0.00004
NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile) rs397514840 0.00003
NM_000546.6(TP53):c.466C>T (p.Arg156Cys) rs563378859 0.00002
NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu) rs757430199 0.00001
NM_000368.5(TSC1):c.1355G>C (p.Gly452Ala) rs371093730 0.00001
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg) rs730882028 0.00001
NM_000546.6(TP53):c.461G>A (p.Gly154Asp) rs762846821 0.00001
NM_000546.6(TP53):c.760A>G (p.Ile254Val) rs746601313 0.00001
NM_001042492.3(NF1):c.4836G>A (p.Arg1612=) rs1555533268 0.00001
NM_000264.5(PTCH1):c.113G>A (p.Gly38Glu) rs143494325
NM_000546.6(TP53):c.677G>C (p.Gly226Ala) rs970212462
NM_001146079.2(CLDN14):c.116_118del (p.Asn39del)
NM_001374353.1(GLI2):c.3784C>T (p.His1262Tyr) rs794727100
NM_004716.4(PCSK7):c.1634A>C (p.Lys545Thr) rs771986131

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