ClinVar Miner

List of variants reported as uncertain significance for connective and soft tissue neoplasm by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.1577G>C (p.Ser526Thr) rs376573446 0.00010
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333 0.00005
NM_000548.5(TSC2):c.5068+8C>T rs747827911 0.00003
NM_000548.5(TSC2):c.2479G>A (p.Val827Met) rs543738044 0.00002
NM_000548.5(TSC2):c.3435G>A (p.Pro1145=) rs749633483 0.00002
NM_000548.5(TSC2):c.4086C>T (p.Val1362=) rs763847509 0.00001
NM_000548.5(TSC2):c.5233C>T (p.Arg1745Cys) rs760413281 0.00001
NM_000368.5(TSC1):c.2440C>T (p.Leu814=) rs199517042
NM_000548.5(TSC2):c.1172_1174del (p.Val391del) rs1567428371
NM_000548.5(TSC2):c.1840-4A>G rs1057523736
NM_000548.5(TSC2):c.2098-3C>A rs876660489
NM_000548.5(TSC2):c.2295C>G (p.Ala765=) rs45509500
NM_000548.5(TSC2):c.2479GTG[1] (p.Val828del) rs1596356726
NM_000548.5(TSC2):c.2768C>T (p.Ser923Phe) rs587778731
NM_000548.5(TSC2):c.4027GAG[1] (p.Glu1344del) rs878854100
NM_000548.5(TSC2):c.481+5G>C rs137854135
NM_000548.5(TSC2):c.599+5_599+7del rs2151062123
NM_000548.5(TSC2):c.910T>C (p.Trp304Arg) rs397515108

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