List of variants studied for Von Hippel-Lindau syndrome by Mendelics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)	rs104893829	0.00039
NM_000551.4(VHL):c.556G>A (p.Glu186Lys)	rs367545984	0.00004
NM_000551.4(VHL):c.235C>T (p.Arg79Cys)	rs200885420	0.00001
NM_000551.4(VHL):c.538A>G (p.Ile180Val)	rs377715747	0.00001
NM_000551.4(VHL):c.123_137del (p.38SGPEE[1])	rs863224839
NM_000551.4(VHL):c.154G>A (p.Glu52Lys)	rs373068386
NM_000551.4(VHL):c.326T>A (p.Ile109Asn)	rs398123482
NM_000551.4(VHL):c.640T>A (p.Ter214Arg)	rs1575932781

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