ClinVar Miner

List of variants studied for benign neoplasm of cerebrum

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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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_001146079.2(CLDN14):c.427G>A (p.Val143Met) rs776564488 0.00004
NM_000420.3(KEL):c.604G>A (p.Gly202Ser) rs2116680039
NM_000420.3(KEL):c.961C>T (p.Gln321Ter) rs980885552
NM_001146079.2(CLDN14):c.116_118del (p.Asn39del)
NM_001146079.2(CLDN14):c.337G>C (p.Ala113Pro) rs138631461
NM_001374353.1(GLI2):c.3784C>T (p.His1262Tyr) rs794727100
NM_003070.5(SMARCA2):c.2564G>T (p.Arg855Leu) rs1471482709
NM_003482.4(KMT2D):c.15689G>A (p.Cys5230Tyr) rs2137715091
NM_004444.5(EPHB4):c.1295_1296del (p.Glu432fs) rs2116449991
NM_004444.5(EPHB4):c.1526C>G (p.Ala509Gly) rs146937374
NM_004716.4(PCSK7):c.1634A>C (p.Lys545Thr) rs771986131
NM_006766.5(KAT6A):c.1433C>T (p.Thr478Ile) rs1554688023

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