ClinVar Miner

List of variants in gene VHL reported as likely pathogenic for not provided

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.242C>T (p.Pro81Leu) rs193922608 0.00001
NM_000551.4(VHL):c.109G>T (p.Glu37Ter) rs1338996432
NM_000551.4(VHL):c.179_192del (p.Arg60fs) rs1064796408
NM_000551.4(VHL):c.191G>C (p.Arg64Pro) rs104893826
NM_000551.4(VHL):c.1A>G (p.Met1Val) rs1060503557
NM_000551.4(VHL):c.224T>G (p.Ile75Ser) rs1064794271
NM_000551.4(VHL):c.232A>G (p.Asn78Asp) rs869025621
NM_000551.4(VHL):c.257C>G (p.Pro86Arg) rs730882034
NM_000551.4(VHL):c.273del (p.Phe91fs) rs1559426047
NM_000551.4(VHL):c.320G>C (p.Arg107Pro) rs193922609
NM_000551.4(VHL):c.326T>A (p.Ile109Asn) rs398123482
NM_000551.4(VHL):c.335A>G (p.Tyr112Cys) rs869025633

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