ClinVar Miner

List of variants studied for urinary bladder disorder by Tuberous sclerosis database (TSC1)

Included ClinVar conditions (29):
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ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.1142-33A>G rs6597586 0.15388
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123 0.15387
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08329
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=) rs35593170 0.00704
NM_000368.5(TSC1):c.2646C>T (p.Ala882=) rs118203720 0.00269
NM_000368.5(TSC1):c.1726T>C (p.Leu576=) rs118203567 0.00165
NM_000368.5(TSC1):c.3303G>A (p.Glu1101=) rs118203751 0.00010
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile) rs77464996 0.00001
NM_000368.5(TSC1):c.203A>G (p.His68Arg) rs118203347 0.00001
NM_000368.5(TSC1):c.1041G>A (p.Trp347Ter) rs118203491
NM_000368.5(TSC1):c.132dup (p.Val46fs) rs118203337
NM_000368.5(TSC1):c.1354G>C (p.Gly452Arg) rs118203519
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter) rs118203542
NM_000368.5(TSC1):c.1579C>T (p.Gln527Ter) rs118203549
NM_000368.5(TSC1):c.163C>T (p.Gln55Ter) rs118203343
NM_000368.5(TSC1):c.1669del (p.Leu557fs) rs118203556
NM_000368.5(TSC1):c.1727_1748delinsG (p.Leu576_Pro583delinsCys) rs118203569
NM_000368.5(TSC1):c.1907_1908del (p.Glu636fs) rs118203599
NM_000368.5(TSC1):c.1958_1959del (p.Ile653fs) rs118203602
NM_000368.5(TSC1):c.1997+67AG[2] rs118203612
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter) rs118203631
NM_000368.5(TSC1):c.2080C>T (p.Gln694Ter) rs397514789
NM_000368.5(TSC1):c.245A>C (p.Lys82Thr) rs118203356
NM_000368.5(TSC1):c.2625+1G>A rs118203715
NM_000368.5(TSC1):c.2626-4T[17_21]
NM_000368.5(TSC1):c.3030G>T (p.Glu1010Asp) rs118203741
NM_000368.5(TSC1):c.473T>G (p.Phe158Cys) rs118203385
NM_000368.5(TSC1):c.489A>T (p.Ser163=) rs118203386
NM_000368.5(TSC1):c.524dup (p.Tyr176fs) rs118203393
NM_000368.5(TSC1):c.569del (p.Arg190fs) rs118203401
NM_000368.5(TSC1):c.658G>T (p.Val220Phe) rs397514830
NM_000368.5(TSC1):c.663+1G>A rs118203419
NM_000368.5(TSC1):c.664-1G>A rs118203423

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