ClinVar Miner

Variants in gene TSC2 with conflicting interpretations "likely pathogenic" and "uncertain significance"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 23
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.5260-1G>C rs1057518103 0.00003
NM_000548.5(TSC2):c.886G>A (p.Val296Met) rs747237113 0.00001
NM_000548.5(TSC2):c.1001T>C (p.Val334Ala) rs45484892
NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg) rs137854298
NM_000548.5(TSC2):c.1257+5G>A rs2151157428
NM_000548.5(TSC2):c.1343T>C (p.Leu448Pro) rs397515206
NM_000548.5(TSC2):c.1778A>G (p.His593Arg) rs45517198
NM_000548.5(TSC2):c.1835T>C (p.Leu612Pro) rs1567458244
NM_000548.5(TSC2):c.1865G>C (p.Arg622Pro) rs45517206
NM_000548.5(TSC2):c.2113G>A (p.Val705Met) rs397515241
NM_000548.5(TSC2):c.225+2T>C rs397515105
NM_000548.5(TSC2):c.2339T>C (p.Leu780Pro) rs2151328709
NM_000548.5(TSC2):c.2355G>A (p.Gln785=) rs2088708544
NM_000548.5(TSC2):c.2356-4_2356-3delinsAG
NM_000548.5(TSC2):c.2447C>T (p.Pro816Leu) rs45517236
NM_000548.5(TSC2):c.2774A>G (p.Asp925Gly) rs1555508942
NM_000548.5(TSC2):c.2859dup (p.Lys954fs) rs796053504
NM_000548.5(TSC2):c.4628A>G (p.His1543Arg) rs2090628516
NM_000548.5(TSC2):c.5068G>A (p.Asp1690Asn) rs137854882
NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter) rs45517414
NM_000548.5(TSC2):c.884C>A (p.Ala295Asp) rs1596288578
NM_000548.5(TSC2):c.910T>C (p.Trp304Arg) rs397515108
Single allele

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