ClinVar Miner

List of variants in gene TSC1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.1916G>T (p.Gly639Val) rs372583166 0.00005
NM_000368.5(TSC1):c.2357G>A (p.Arg786Gln) rs1336228562 0.00003
NM_000368.5(TSC1):c.89A>G (p.Lys30Arg) rs796053452 0.00002
NM_000368.5(TSC1):c.1429_1431del (p.Lys477del) rs796053469 0.00001
NM_000368.5(TSC1):c.518C>T (p.Ala173Val) rs777484049 0.00001
NM_000368.5(TSC1):c.809C>T (p.Ser270Leu) rs878853968 0.00001
NM_000368.5(TSC1):c.826T>C (p.Ser276Pro) rs774009225 0.00001
NM_000368.5(TSC1):c.938C>T (p.Ser313Phe) rs766317920 0.00001
GRCh37/hg19 9q34.13(chr9:135800974-135801126)x1
NM_000368.5(TSC1):c.1029+55C>T rs2538861266
NM_000368.5(TSC1):c.1235C>T (p.Pro412Leu) rs1845897946
NM_000368.5(TSC1):c.1339C>G (p.Pro447Ala) rs1588313030
NM_000368.5(TSC1):c.134T>C (p.Leu45Ser) rs1554820662
NM_000368.5(TSC1):c.1610A>G (p.His537Arg) rs1845643427
NM_000368.5(TSC1):c.1732A>G (p.Thr578Ala) rs2131828425
NM_000368.5(TSC1):c.1898G>A (p.Gly633Glu) rs1554815746
NM_000368.5(TSC1):c.2162G>A (p.Arg721His) rs769566267
NM_000368.5(TSC1):c.2293C>G (p.Gln765Glu) rs118203673
NM_000368.5(TSC1):c.2339G>A (p.Arg780Lys) rs1845445479
NM_000368.5(TSC1):c.2391+12A>G rs2131727338
NM_000368.5(TSC1):c.2502+2T>A rs2131702449
NM_000368.5(TSC1):c.2625G>C (p.Lys875Asn) rs777437357
NM_000368.5(TSC1):c.3170G>T (p.Gly1057Val) rs1588287204
NM_000368.5(TSC1):c.3199_3211delinsGCCAGCATCCCCACCACTGTGGG (p.Met1067fs) rs2538442709
NM_000368.5(TSC1):c.3394C>A (p.Pro1132Thr) rs1249897804
NM_000368.5(TSC1):c.363+667A>T rs1846769659
NM_000368.5(TSC1):c.692C>T (p.Pro231Leu) rs1322586198

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