ClinVar Miner

List of variants reported as not provided for Tuberous sclerosis 2

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.*26G>A rs13332015 0.03592
NM_000488.4(SERPINC1):c.-11G>A rs483352843 0.00005
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333 0.00005
NM_000488.4(SERPINC1):c.-35C>T rs200460215 0.00003
NM_000488.4(SERPINC1):c.491G>A (p.Arg164Gln) rs483352852 0.00001
NM_000488.4(SERPINC1):c.598G>C (p.Ala200Pro) rs483352853 0.00001
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) rs45438205 0.00001
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His) rs45517395 0.00001
NM_000488.4(SERPINC1):c.1016G>A (p.Trp339Ter) rs483352856
NM_000488.4(SERPINC1):c.1030GAG[1] (p.Glu345del) rs483352855
NM_000488.4(SERPINC1):c.1154-7C>A rs483352858
NM_000488.4(SERPINC1):c.116_123del (p.Ile39fs) rs483352844
NM_000488.4(SERPINC1):c.1213C>A (p.Leu405Ile) rs483352859
NM_000488.4(SERPINC1):c.409-24A>C rs483352849
NM_000488.4(SERPINC1):c.42-12G>A rs483352845
NM_000488.4(SERPINC1):c.458T>A (p.Phe153Tyr) rs483352848
NM_000488.4(SERPINC1):c.486_487del (p.Tyr163fs) rs483352850
NM_000488.4(SERPINC1):c.506C>T (p.Ser169Phe) rs483352851
NM_000488.4(SERPINC1):c.536T>A (p.Phe179Tyr) rs483352847
NM_000488.4(SERPINC1):c.624+11G>A rs483352846
NM_000488.4(SERPINC1):c.641C>A (p.Ser214Tyr) rs483352854
NM_000488.4(SERPINC1):c.849_853dup (p.Tyr285Ter) rs483352857
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) rs28934872
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp) rs397514914
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln) rs45517259
NM_000548.5(TSC2):c.3106T>C (p.Ser1036Pro) rs45517281
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro) rs45516293
NM_000548.5(TSC2):c.4597C>T (p.Leu1533Phe) rs1567528528
NM_000548.5(TSC2):c.4735G>A (p.Gly1579Ser) rs45503995
NM_000548.5(TSC2):c.929A>T (p.Tyr310Phe) rs878854122

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