ClinVar Miner

List of variants reported as not provided for autism spectrum disorder by Tuberous sclerosis database (TSC2)

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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NM_000548.5(TSC2):c.1597A>C (p.Lys533Gln) rs397515038
NM_000548.5(TSC2):c.190A>G (p.Ile64Val) rs397515081
NM_000548.5(TSC2):c.2183G>T (p.Cys728Phe) rs397514908
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser) rs397515077
NM_000548.5(TSC2):c.2861A>G (p.Lys954Arg) rs397515191
NM_000548.5(TSC2):c.2879C>T (p.Ser960Phe) rs397514898
NM_000548.5(TSC2):c.2950G>C (p.Glu984Gln) rs397515156
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met) rs397515209
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795
NM_000548.5(TSC2):c.454C>G (p.His152Asp) rs397515285
NM_000548.5(TSC2):c.5072T>C (p.Met1691Thr) rs397515110
NM_000548.5(TSC2):c.5155G>A (p.Ala1719Thr) rs201206500

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