ClinVar Miner

List of variants in gene ADGRV1 reported as pathogenic by GeneDx

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_032119.4(ADGRV1):c.17668_17669del (p.Met5890fs) rs757696771 0.00006
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) rs121909762 0.00004
NM_032119.4(ADGRV1):c.2864C>A (p.Ser955Ter) rs746618021 0.00003
NM_032119.4(ADGRV1):c.17062C>T (p.Arg5688Ter) rs747622607 0.00002
NM_032119.4(ADGRV1):c.11410C>T (p.Arg3804Ter) rs767570081 0.00001
NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter) rs373780305 0.00001
NM_032119.4(ADGRV1):c.10213C>T (p.Arg3405Ter) rs763670293
NM_032119.4(ADGRV1):c.10736_10737del (p.Ala3579fs) rs1307312865
NM_032119.4(ADGRV1):c.11122-2A>G rs1057517741
NM_032119.4(ADGRV1):c.12197_12209delinsTGGGA (p.Gly4066fs) rs1554107590
NM_032119.4(ADGRV1):c.14128_14129del (p.Glu4709_Ser4710insTer) rs755839828
NM_032119.4(ADGRV1):c.17258G>A (p.Trp5753Ter)
NM_032119.4(ADGRV1):c.17978_17979del (p.Val5993fs) rs1581711551
NM_032119.4(ADGRV1):c.3592G>T (p.Glu1198Ter) rs2149463861
NM_032119.4(ADGRV1):c.3727dup (p.Ile1243fs) rs1768907217
NM_032119.4(ADGRV1):c.4114_4117del (p.Ile1372fs) rs1580609047
NM_032119.4(ADGRV1):c.956dup (p.Asn319fs) rs752179149
NM_032119.4(ADGRV1):c.9877C>T (p.Arg3293Ter) rs769215629

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