List of variants in gene TSC1 reported as uncertain significance by Fulgent Genetics, Fulgent Genetics

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: 42

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HGVS	dbSNP	gnomAD frequency
NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln)	rs199755731	0.00011
NM_000368.5(TSC1):c.1126G>T (p.Val376Phe)	rs1461609607	0.00004
NM_000368.5(TSC1):c.941C>T (p.Thr314Met)	rs373454700	0.00003
NM_000368.5(TSC1):c.2303G>A (p.Arg768His)	rs1033725987	0.00002
NM_000368.5(TSC1):c.2882A>G (p.Glu961Gly)	rs760762170	0.00002
NM_000368.5(TSC1):c.1114C>G (p.Pro372Ala)	rs760638759	0.00001
NM_000368.5(TSC1):c.1238A>G (p.Gln413Arg)	rs1060503218	0.00001
NM_000368.5(TSC1):c.1754C>T (p.Pro585Leu)	rs1845627444	0.00001
NM_000368.5(TSC1):c.1811A>G (p.Tyr604Cys)	rs1057522817	0.00001
NM_000368.5(TSC1):c.1816C>T (p.His606Tyr)	rs1343881428	0.00001
NM_000368.5(TSC1):c.22G>A (p.Gly8Arg)	rs773784532	0.00001
NM_000368.5(TSC1):c.2527C>G (p.Gln843Glu)	rs749414404	0.00001
NM_000368.5(TSC1):c.2651A>G (p.Tyr884Cys)	rs1449821288	0.00001
NM_000368.5(TSC1):c.2897A>G (p.Tyr966Cys)	rs762213436	0.00001
NM_000368.5(TSC1):c.2975+6A>T	rs1060503220	0.00001
NM_000368.5(TSC1):c.3047G>A (p.Gly1016Asp)	rs1313165721	0.00001
NM_000368.5(TSC1):c.3394C>T (p.Pro1132Ser)	rs1249897804	0.00001
NM_000368.5(TSC1):c.518C>T (p.Ala173Val)	rs777484049	0.00001
NM_000368.5(TSC1):c.670A>T (p.Met224Leu)	rs535397245	0.00001
NM_000368.5(TSC1):c.70G>A (p.Asp24Asn)	rs984306144	0.00001
NM_000368.5(TSC1):c.884G>C (p.Ser295Thr)	rs1415705359	0.00001
NM_000368.5(TSC1):c.1541G>A (p.Gly514Asp)	rs1564482313
NM_000368.5(TSC1):c.1781T>A (p.Val594Glu)	rs1060503194
NM_000368.5(TSC1):c.1988A>T (p.Glu663Val)	rs1845605103
NM_000368.5(TSC1):c.2068A>G (p.Thr690Ala)	rs752473063
NM_000368.5(TSC1):c.2236G>T (p.Asp746Tyr)	rs786203007
NM_000368.5(TSC1):c.2359G>A (p.Glu787Lys)	rs1564477097
NM_000368.5(TSC1):c.2420T>C (p.Ile807Thr)	rs118203690
NM_000368.5(TSC1):c.2449G>T (p.Ala817Ser)	rs1554814652
NM_000368.5(TSC1):c.2454C>G (p.Asn818Lys)	rs1014587956
NM_000368.5(TSC1):c.272C>T (p.Ser91Leu)	rs118203361
NM_000368.5(TSC1):c.2749G>C (p.Ala917Pro)	rs397514873
NM_000368.5(TSC1):c.2841G>C (p.Arg947Ser)	rs1417111404
NM_000368.5(TSC1):c.3085A>T (p.Ser1029Cys)	rs2131610745
NM_000368.5(TSC1):c.3112AGC[3] (p.Ser1041_Ser1043del)	rs2234980
NM_000368.5(TSC1):c.3143C>T (p.Pro1048Leu)	rs1203864892
NM_000368.5(TSC1):c.3258C>A (p.Ser1086Arg)	rs1845053380
NM_000368.5(TSC1):c.3460A>G (p.Met1154Val)	rs1845024278
NM_000368.5(TSC1):c.363+3_363+18del	rs1554820251
NM_000368.5(TSC1):c.39G>A (p.Met13Ile)	rs2132296041
NM_000368.5(TSC1):c.478C>T (p.Arg160Cys)	rs1554819886
NM_000368.5(TSC1):c.5C>T (p.Ala2Val)	rs1588363746

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