ClinVar Miner

List of variants in gene combination LOC107303340, VHL reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.463+108T>G rs1678607 0.89694
NM_000551.4(VHL):c.*294G>A rs1642742 0.57360
NM_000551.4(VHL):c.463+174del rs140172229 0.07764
NM_000551.4(VHL):c.341-314G>A rs9819196 0.07350
NM_000551.4(VHL):c.340+994A>G rs11920834 0.02920
NM_000551.4(VHL):c.341-37G>A rs115744107 0.02087
NM_000551.4(VHL):c.464-153C>G rs112857191 0.01617
NM_000551.4(VHL):c.463+43A>G rs34661876 0.01217
NM_000551.4(VHL):c.552C>T (p.Leu184=) rs779157605 0.00005
NM_000551.4(VHL):c.340+172_340+174dup rs556405301
NM_000551.4(VHL):c.340+173_340+174dup rs556405301
NM_000551.4(VHL):c.340+174dup rs556405301
NM_000551.4(VHL):c.340+944_340+945dup rs35658375
NM_000551.4(VHL):c.340+945dup rs35658375
NM_000551.4(VHL):c.341-186del rs35286098
NM_000551.4(VHL):c.341-324dup rs367615363
NM_000551.4(VHL):c.464-252C>G rs1703153
NM_000551.4(VHL):c.464-30C>T rs2125130407

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