ClinVar Miner

List of variants in gene TSC1 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.1029+2T>C rs1554817336
NM_000368.5(TSC1):c.1109C>G (p.Ser370Ter)
NM_000368.5(TSC1):c.1125dup (p.Val376fs) rs1554817227
NM_000368.5(TSC1):c.1141+1G>T rs397514819
NM_000368.5(TSC1):c.1192del (p.Ala398fs) rs2131943928
NM_000368.5(TSC1):c.1326_1327del (p.Gly443fs) rs1064795285
NM_000368.5(TSC1):c.1569_1570delinsGTGAA (p.Ser524Ter) rs2131841336
NM_000368.5(TSC1):c.1675del (p.Cys559fs)
NM_000368.5(TSC1):c.1998-2A>C rs1057518217
NM_000368.5(TSC1):c.2042-2A>G rs118203628
NM_000368.5(TSC1):c.211-7T>G rs1554820321
NM_000368.5(TSC1):c.2338A>T (p.Arg780Ter) rs1564477162
NM_000368.5(TSC1):c.2392-74_2392-1del
NM_000368.5(TSC1):c.2625+367A>G rs1564474542
NM_000368.5(TSC1):c.2699_2700insAA (p.Leu902fs) rs2131635932
NM_000368.5(TSC1):c.456del (p.Asp153fs) rs1554819896
NM_000368.5(TSC1):c.473T>C (p.Phe158Ser) rs118203385
NM_000368.5(TSC1):c.569G>C (p.Arg190Pro) rs118203402
NM_000368.5(TSC1):c.572T>C (p.Leu191Pro) rs118203403
NM_000368.5(TSC1):c.664-15A>G rs118203422
NM_000368.5(TSC1):c.737+3A>G rs118203439
NM_000368.5(TSC1):c.737G>A (p.Arg246Lys) rs118203436
NM_000368.5(TSC1):c.913G>A (p.Gly305Arg) rs118203468

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