ClinVar Miner

List of variants in gene TSC2 studied for ovarian cancer

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323 0.01675
NM_000548.5(TSC2):c.167A>G (p.Asn56Ser) rs144165984 0.00021
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His) rs45517392 0.00006
NM_000548.5(TSC2):c.3968C>T (p.Ala1323Val) rs397515062 0.00005
NM_000548.5(TSC2):c.4469A>G (p.Glu1490Gly) rs759882146 0.00005
NM_000548.5(TSC2):c.586G>A (p.Ala196Thr) rs45517113 0.00003
NM_000548.5(TSC2):c.2437G>A (p.Val813Met) rs375030314 0.00002
NM_000548.5(TSC2):c.5252G>A (p.Arg1751His) rs373365980 0.00002
NM_000548.5(TSC2):c.2365G>A (p.Val789Ile) rs779472379 0.00001
NM_000548.5(TSC2):c.3958G>A (p.Val1320Ile) rs767495365 0.00001
NM_000548.5(TSC2):c.196G>C (p.Glu66Gln)
NM_000548.5(TSC2):c.2023G>A (p.Ala675Thr) rs764840082
NM_000548.5(TSC2):c.2152C>T (p.Arg718Cys) rs182538665
NM_000548.5(TSC2):c.3002G>A (p.Gly1001Glu) rs368878445
NM_000548.5(TSC2):c.4181T>C (p.Leu1394Pro)
NM_000548.5(TSC2):c.4362T>G (p.Ser1454Arg) rs1320400029
NM_000548.5(TSC2):c.4678G>A (p.Ala1560Thr) rs777539610
NM_000548.5(TSC2):c.4715C>T (p.Thr1572Met) rs1327099376

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