ClinVar Miner

List of variants in gene TSC2 reported as benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 21
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HGVS dbSNP
NM_000548.3(TSC2):c.1100G>A (p.Arg367Gln) rs1800725
NM_000548.3(TSC2):c.255C>T (p.Val85=) rs45517098
NM_000548.3(TSC2):c.3422C>T (p.Ala1141Val) rs34870424
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.3(TSC2):c.4536C>T (p.Asp1512=) rs35986575
NM_000548.4(TSC2):c.1276C>T (p.Leu426=) rs45478593
NM_000548.4(TSC2):c.1747G>A (p.Ala583Thr) rs1800729
NM_000548.4(TSC2):c.1869C>T (p.Ala623=) rs111244727
NM_000548.4(TSC2):c.228C>T (p.His76=) rs45517097
NM_000548.4(TSC2):c.2545+26G>A rs45517242
NM_000548.4(TSC2):c.2546-12C>T rs13331451
NM_000548.4(TSC2):c.2580T>C (p.Phe860=) rs13337626
NM_000548.4(TSC2):c.272C>T (p.Pro91Leu) rs45482691
NM_000548.4(TSC2):c.275A>T (p.Glu92Val) rs137853994
NM_000548.4(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000548.4(TSC2):c.3986G>A (p.Arg1329His) rs45517323
NM_000548.4(TSC2):c.4006-8C>T rs45517325
NM_000548.4(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923
NM_000548.4(TSC2):c.4908C>T (p.Asp1636=) rs115200071
NM_000548.4(TSC2):c.5106C>A (p.Ile1702=) rs45483700
NM_000548.4(TSC2):c.5321G>C (p.Ser1774Thr) rs9209

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