List of variants reported as likely pathogenic by Liping Wei Laboratory, Peking University

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Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val)	rs796053483	0.00001
NM_152722.5(HEPACAM):c.803+1G>A	rs375712202	0.00001
10q21.3duplication
16q24.1duplication
1q41 duplication
20p12.1duplication
2q14.3duplication
2q24.3deletion
4q35.2deletion
5p15.31duplication
6p22.3duplication
6q23.3deletion
7q31.1duplication
8q24.13duplication
8q24.3duplication
NM_000314.8(PTEN):c.-116dup	rs1564801388
NM_000314.8(PTEN):c.-60dup	rs1564801473
NM_001042492.3(NF1):c.1721+21dup	rs762735676
NM_001111125.3(IQSEC2):c.1229del (p.Pro410fs)	rs1569305431
NM_002972.4(SBF1):c.1180G>T (p.Glu394Ter)	rs1569513495
NM_014141.6(CNTNAP2):c.1778-1G>C	rs1396313317
NM_021008.4(DEAF1):c.664+2T>G	rs1564950387

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