ClinVar Miner

List of variants studied for Tuberous sclerosis 1 by Mendelics

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Total variants: 15
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HGVS dbSNP
NM_000368.4(TSC1):c.-144G>A rs796053468
NM_000368.4(TSC1):c.1250C>T (p.Thr417Ile) rs77464996
NM_000368.4(TSC1):c.1960C>G (p.Gln654Glu) rs75820036
NM_000368.4(TSC1):c.2027G>A (p.Trp676Ter) rs1554815454
NM_000368.4(TSC1):c.2281T>C (p.Tyr761His) rs776386313
NM_000368.4(TSC1):c.2503-2A>G rs118203704
NM_000368.4(TSC1):c.2626-3C>T rs1060503192
NM_000368.4(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745
NM_000368.4(TSC1):c.492G>A (p.Trp164Ter) rs1554819870
NM_000368.5(TSC1):c.1389del (p.Gly464fs)
NM_000368.5(TSC1):c.1513_1514TC[1] (p.Pro506fs)
NM_000368.5(TSC1):c.2440del (p.Glu813_Leu814insTer)
NM_000368.5(TSC1):c.2626-3_2626-2insT
NM_000368.5(TSC1):c.461del (p.Phe154fs)
NM_000368.5(TSC1):c.998del (p.Pro333fs)

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