ClinVar Miner

List of variants in gene combination LOC107303340, VHL reported by PreventionGenetics

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Gene type:
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Total variants: 20
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HGVS dbSNP
NM_000551.3(VHL):c.341-4A>T rs1559428033
NM_000551.3(VHL):c.344A>C (p.His115Pro)
NM_000551.3(VHL):c.362A>G (p.Asp121Gly) rs5030832
NM_000551.3(VHL):c.371C>T (p.Thr124Ile) rs193922610
NM_000551.3(VHL):c.376G>A (p.Asp126Asn) rs104893831
NM_000551.3(VHL):c.407T>C (p.Phe136Ser) rs5030833
NM_000551.3(VHL):c.408del (p.Phe136fs) rs397516442
NM_000551.3(VHL):c.416C>G (p.Ser139Cys) rs587780732
NM_000551.3(VHL):c.461C>G (p.Pro154Arg) rs1399097617
NM_000551.3(VHL):c.463+4C>T rs879253989
NM_000551.3(VHL):c.463+8C>T rs5030834
NM_000551.3(VHL):c.482G>A (p.Arg161Gln) rs730882035
NM_000551.3(VHL):c.486C>G (p.Cys162Trp) rs5030622
NM_000551.3(VHL):c.499C>T (p.Arg167Trp) rs5030820
NM_000551.3(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000551.3(VHL):c.544A>G (p.Arg182Gly) rs778205243
NM_000551.3(VHL):c.556G>A (p.Glu186Lys) rs367545984
NM_000551.3(VHL):c.575C>T (p.Pro192Leu) rs902694906
NM_000551.3(VHL):c.614G>A (p.Arg205His) rs777130107
NM_000551.3(VHL):c.639T>C (p.Asp213=) rs775624944

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