List of variants in gene TSC2 reported as likely benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_000548.5(TSC2):c.1281C>A (p.Ile427=)	rs45478892	0.00202
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)	rs45517423	0.00156
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg)	rs45466399	0.00122
NM_000548.5(TSC2):c.1946T>C (p.Met649Thr)	rs45490792	0.00116
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser)	rs45484298	0.00111
NM_000548.5(TSC2):c.275A>T (p.Glu92Val)	rs137853994	0.00101
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=)	rs35282988	0.00077
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr)	rs137854154	0.00068
NM_000548.5(TSC2):c.3610+6G>A	rs45517301	0.00043
NM_000548.5(TSC2):c.3744C>T (p.Ala1248=)	rs45517307	0.00027
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp)	rs45517328	0.00026
NM_000548.5(TSC2):c.4493+17C>T	rs45517345	0.00016
NM_000548.5(TSC2):c.4809C>T (p.Asp1603=)	rs147578602	0.00015
NM_000548.5(TSC2):c.4493+16C>G	rs45491597	0.00012
NM_000548.5(TSC2):c.4302C>T (p.Gly1434=)	rs137854000	0.00009
NM_000548.5(TSC2):c.1946+15G>A	rs752601710	0.00006
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His)	rs45517392	0.00006
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp)	rs45517333	0.00005
NM_000548.5(TSC2):c.5161-20C>T	rs200315428	0.00004
NM_000548.5(TSC2):c.3663G>A (p.Ser1221=)	rs137854268	0.00003
NM_000548.5(TSC2):c.1258-18C>T	rs778741704	0.00001
NM_000548.5(TSC2):c.3366T>C (p.Arg1122=)	rs778352969	0.00001
NM_000548.5(TSC2):c.337-3T>C	rs770515822	0.00001
NM_000548.5(TSC2):c.481+9C>T	rs201026150	0.00001
NM_000548.5(TSC2):c.849-8A>G	rs765336852	0.00001
NM_000548.5(TSC2):c.3611-11C>T	rs375617364
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg)	rs587778732
NM_000548.5(TSC2):c.4780C>T (p.Leu1594=)	rs45511204
NM_000548.5(TSC2):c.482-20T>A	rs548831116
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg)	rs45514196
NM_000548.5(TSC2):c.5094C>T (p.Ser1698=)	rs45514196
NM_000548.5(TSC2):c.975+15G>T	rs753334357

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