ClinVar Miner

List of variants in gene combination LOC107303340, VHL reported by Fulgent Genetics, Fulgent Genetics

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.340+578C>T rs139622356 0.00064
NM_000551.4(VHL):c.420C>A (p.Leu140=) rs369465430 0.00004
NM_000551.4(VHL):c.554A>G (p.Tyr185Cys) rs561874453 0.00003
NM_000551.4(VHL):c.614G>A (p.Arg205His) rs777130107 0.00003
NM_000551.4(VHL):c.439A>G (p.Ile147Val) rs1057517560 0.00002
NM_000551.4(VHL):c.373C>T (p.His125Tyr) rs375401722 0.00001
NM_000551.4(VHL):c.408T>G (p.Phe136Leu) rs878854125 0.00001
NM_000551.4(VHL):c.426T>C (p.Val142=) rs143594610 0.00001
NM_000551.4(VHL):c.499C>T (p.Arg167Trp) rs5030820 0.00001
NM_000551.4(VHL):c.634G>T (p.Gly212Ter) rs1553620389 0.00001
NM_000551.4(VHL):c.637G>C (p.Asp213His) rs1696367993 0.00001
NM_000551.4(VHL):c.398C>T (p.Thr133Ile) rs1060503565
NM_000551.4(VHL):c.422A>G (p.Asn141Ser) rs1064796570
NM_000551.4(VHL):c.430G>A (p.Gly144Arg) rs869025650
NM_000551.4(VHL):c.463+9G>A rs1057522720
NM_000551.4(VHL):c.464-2A>G rs5030816
NM_000551.4(VHL):c.508G>A (p.Val170Ile) rs1553620326
NM_000551.4(VHL):c.530G>C (p.Arg177Thr) rs1470394966
NM_000551.4(VHL):c.574C>T (p.Pro192Ser) rs28940300

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