List of variants in gene combination PKD1, TSC2 reported as benign for Tuberous sclerosis 2

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=)	rs1748	0.35806
NM_000548.5(TSC2):c.5161-10A>C	rs1800718	0.30182
NM_000548.5(TSC2):c.5260-49C>T	rs13332221	0.18552
NM_000548.5(TSC2):c.4990-7C>T	rs45457095	0.00888
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr)	rs9209	0.00888
NM_000548.5(TSC2):c.5025G>A (p.Pro1675=)	rs35118875	0.00415
NM_000548.5(TSC2):c.5260-15C>T	rs45517416	0.00138
NM_000548.5(TSC2):c.5161-9C>T	rs45515893	0.00094
NM_000548.5(TSC2):c.5131G>A (p.Val1711Met)	rs139779505	0.00054
NM_000548.5(TSC2):c.5312C>T (p.Pro1771Leu)	rs137854214	0.00046
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=)	rs45475501	0.00030
NM_000548.5(TSC2):c.5289C>T (p.Pro1763=)	rs144965811	0.00015
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His)	rs45517392	0.00007
NM_000548.5(TSC2):c.5017G>A (p.Val1673Ile)	rs45490993	0.00003
NM_000548.5(TSC2):c.5260-12C>T	rs769264472	0.00002
NM_000548.5(TSC2):c.5106C>T (p.Ile1702=)	rs45483700
NM_000548.5(TSC2):c.5260-25C>G	rs13332222
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=)	rs1051771

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