List of variants in gene VHL reported as likely pathogenic by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_000551.4(VHL):c.160A>T (p.Met54Leu)	rs1696125033
NM_000551.4(VHL):c.161T>G (p.Met54Arg)
NM_000551.4(VHL):c.162G>A (p.Met54Ile)
NM_000551.4(VHL):c.188T>A (p.Leu63Gln)	rs104893827
NM_000551.4(VHL):c.190C>A (p.Arg64Ser)	rs1487408934
NM_000551.4(VHL):c.203C>T (p.Ser68Leu)	rs869025617
NM_000551.4(VHL):c.208G>C (p.Glu70Gln)	rs5030802
NM_000551.4(VHL):c.220G>T (p.Val74Phe)
NM_000551.4(VHL):c.221T>A (p.Val74Asp)	rs5030803
NM_000551.4(VHL):c.224T>G (p.Ile75Ser)	rs1064794271
NM_000551.4(VHL):c.233A>T (p.Asn78Ile)	rs5030804
NM_000551.4(VHL):c.242C>A (p.Pro81Gln)	rs193922608
NM_000551.4(VHL):c.245G>A (p.Arg82His)	rs794726890
NM_000551.4(VHL):c.265C>T (p.Leu89Phe)	rs1575922124
NM_000551.4(VHL):c.277G>C (p.Gly93Arg)	rs5030808
NM_000551.4(VHL):c.278_279delinsTT (p.Gly93Val)	rs1559426072
NM_000551.4(VHL):c.302T>C (p.Leu101Pro)	rs1553619456
NM_000551.4(VHL):c.308C>T (p.Pro103Leu)	rs2125125299

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