List of variants in gene VHL reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000551.4(VHL):c.74C>T (p.Pro25Leu)	rs35460768	0.00261
NM_000551.4(VHL):c.150C>G (p.Ala50=)	rs61751580	0.00070
NM_000551.4(VHL):c.183C>G (p.Pro61=)	rs63650860	0.00067
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)	rs104893829	0.00039
NM_000551.4(VHL):c.89G>A (p.Gly30Glu)	rs1064793290	0.00006
NM_000551.4(VHL):c.114C>T (p.Ser38=)	rs417164	0.00002
NM_000551.4(VHL):c.192C>T (p.Arg64=)	rs1012545817	0.00001
NM_000551.4(VHL):c.242C>T (p.Pro81Leu)	rs193922608	0.00001
NM_000551.4(VHL):c.292T>C (p.Tyr98His)	rs5030809	0.00001
NM_000551.4(VHL):c.298A>G (p.Thr100Ala)	rs745901803	0.00001
NM_000551.4(VHL):c.-61_-51dup	rs727503743
NM_000551.4(VHL):c.-62_-43del
NM_000551.4(VHL):c.103G>A (p.Ala35Thr)	rs1405360663
NM_000551.4(VHL):c.109G>T (p.Glu37Ter)	rs1338996432
NM_000551.4(VHL):c.119C>G (p.Pro40Arg)	rs200343185
NM_000551.4(VHL):c.154G>A (p.Glu52Lys)	rs373068386
NM_000551.4(VHL):c.250G>T (p.Val84Leu)	rs5030827
NM_000551.4(VHL):c.325A>G (p.Ile109Val)

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