ClinVar Miner

List of variants reported as uncertain significance for Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II by Fulgent Genetics, Fulgent Genetics

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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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