ClinVar Miner

List of variants reported as not provided for Tuberous sclerosis 2

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Total variants: 20
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HGVS dbSNP
NM_000488.3(SERPINC1):c.-11G>A rs483352843
NM_000488.3(SERPINC1):c.-35C>T rs200460215
NM_000488.3(SERPINC1):c.1016G>A (p.Trp339Ter) rs483352856
NM_000488.3(SERPINC1):c.1030_1032GAG[1] (p.Glu345del) rs483352855
NM_000488.3(SERPINC1):c.1154-7C>A rs483352858
NM_000488.3(SERPINC1):c.116_123del (p.Ile39fs) rs483352844
NM_000488.3(SERPINC1):c.1213C>A (p.Leu405Ile) rs483352859
NM_000488.3(SERPINC1):c.409-24A>C rs483352849
NM_000488.3(SERPINC1):c.42-12G>A rs483352845
NM_000488.3(SERPINC1):c.458T>A (p.Phe153Tyr) rs483352848
NM_000488.3(SERPINC1):c.484_485CT[1] (p.Tyr163fs) rs483352850
NM_000488.3(SERPINC1):c.491G>A (p.Arg164Gln) rs483352852
NM_000488.3(SERPINC1):c.506C>T (p.Ser169Phe) rs483352851
NM_000488.3(SERPINC1):c.536T>A (p.Phe179Tyr) rs483352847
NM_000488.3(SERPINC1):c.598G>C (p.Ala200Pro) rs483352853
NM_000488.3(SERPINC1):c.624+11G>A rs483352846
NM_000488.3(SERPINC1):c.641C>A (p.Ser214Tyr) rs483352854
NM_000488.3(SERPINC1):c.849_853dup (p.Tyr285Ter) rs483352857
NM_000548.5(TSC2):c.*26G>A rs13332015
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) rs28934872

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