ClinVar Miner

List of variants in gene VHL reported by Baylor Genetics

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Gene type:
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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.25G>A (p.Asp9Asn) rs587780730 0.00008
NM_000551.4(VHL):c.28G>A (p.Glu10Lys) rs1057519261 0.00006
NM_000551.4(VHL):c.89G>A (p.Gly30Glu) rs1064793290 0.00006
NM_000551.4(VHL):c.167C>G (p.Ala56Gly) rs752980085 0.00004
NM_000551.4(VHL):c.14C>T (p.Ala5Val) rs755333116 0.00002
NM_000551.4(VHL):c.139G>A (p.Glu47Lys) rs1457039250 0.00001
NM_000551.4(VHL):c.205C>G (p.Arg69Gly) rs1428175816 0.00001
NM_000551.4(VHL):c.235C>T (p.Arg79Cys) rs200885420 0.00001
NM_000551.4(VHL):c.242C>T (p.Pro81Leu) rs193922608 0.00001
NM_000551.4(VHL):c.275A>T (p.Asp92Val) rs749091984 0.00001
NM_000551.4(VHL):c.34G>C (p.Glu12Gln) rs1064794788 0.00001
NM_000551.4(VHL):c.71G>A (p.Gly24Asp) rs878854129 0.00001
NM_000551.4(VHL):c.98C>T (p.Ser33Leu) rs1476994915 0.00001
NM_000551.4(VHL):c.-89_-51del
NM_000551.4(VHL):c.104C>A (p.Ala35Asp) rs587780536
NM_000551.4(VHL):c.112_156dup (p.Ser38_Glu52dup) rs1575921303
NM_000551.4(VHL):c.123_137dup (p.38SGPEE[3]) rs863224839
NM_000551.4(VHL):c.125A>C (p.Glu42Ala) rs1064796244
NM_000551.4(VHL):c.13G>A (p.Ala5Thr)
NM_000551.4(VHL):c.154G>T (p.Glu52Ter) rs373068386
NM_000551.4(VHL):c.169G>T (p.Gly57Trp) rs1064795194
NM_000551.4(VHL):c.185T>C (p.Val62Ala) rs1696127941
NM_000551.4(VHL):c.209A>G (p.Glu70Gly) rs786202857
NM_000551.4(VHL):c.218A>G (p.Gln73Arg) rs1295818809
NM_000551.4(VHL):c.219G>C (p.Gln73His) rs1575921862
NM_000551.4(VHL):c.262T>A (p.Trp88Arg) rs1553619431
NM_000551.4(VHL):c.277G>A (p.Gly93Ser) rs5030808
NM_000551.4(VHL):c.29A>T (p.Glu10Val) rs786204065
NM_000551.4(VHL):c.305C>G (p.Pro102Arg)
NM_000551.4(VHL):c.34_35delinsTT (p.Glu12Leu) rs1696115662
NM_000551.4(VHL):c.43G>A (p.Ala15Thr) rs1060503568
NM_000551.4(VHL):c.62A>C (p.Glu21Ala) rs1060503548
NM_000551.4(VHL):c.86_87delinsTT (p.Gly29Val) rs879254115
NM_000551.4(VHL):c.99_113dup (p.Ala35_Gly39dup) rs1236159514

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