ClinVar Miner

List of variants reported as uncertain significance for benign neoplasm by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

Included ClinVar conditions (127):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln) rs145704867 0.00014
NM_001365951.3(KIF1B):c.215G>A (p.Arg72His) rs761343609 0.00008
NM_001365951.3(KIF1B):c.2115+6545C>A rs1299989581 0.00004
NM_001365951.3(KIF1B):c.2611G>A (p.Glu871Lys) rs763122049 0.00004
NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile) rs397514840 0.00003
NM_001365951.3(KIF1B):c.5203A>G (p.Ser1735Gly) rs775692548 0.00003
NM_001365951.3(KIF1B):c.5225G>A (p.Arg1742His) rs768058092 0.00002
NM_017849.4(TMEM127):c.52C>T (p.Pro18Ser) rs1452142786 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_001042492.3(NF1):c.4836G>A (p.Arg1612=) rs1555533268 0.00001
NM_001365951.3(KIF1B):c.101C>T (p.Ser34Leu) rs1269940164 0.00001
NM_001365951.3(KIF1B):c.2115+6476T>C rs764466176 0.00001
NM_001365951.3(KIF1B):c.2174C>T (p.Ala725Val) rs773852256 0.00001
NM_001365951.3(KIF1B):c.4601T>G (p.Leu1534Arg) rs1011009249 0.00001
NM_001365951.3(KIF1B):c.5176C>T (p.Arg1726Cys) rs754479325 0.00001
NM_000264.5(PTCH1):c.113G>A (p.Gly38Glu) rs143494325
NM_001365951.3(KIF1B):c.2115+6012C>G
NM_001365951.3(KIF1B):c.2115+7115C>A
NM_001365951.3(KIF1B):c.2115+7270G>A
NM_001365951.3(KIF1B):c.2115+7343G>A
NM_001365951.3(KIF1B):c.3163G>T (p.Gly1055Cys) rs2102315795
NM_001365951.3(KIF1B):c.3290A>G (p.Lys1097Arg)
NM_001365951.3(KIF1B):c.4321A>T (p.Ile1441Phe)
NM_001365951.3(KIF1B):c.5300C>G (p.Thr1767Ser)
NM_017849.4(TMEM127):c.526A>G (p.Ser176Gly) rs1553436876

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