ClinVar Miner

List of variants in gene ADGRV1 reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 8
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NM_032119.4(ADGRV1):c.12368dup (p.Ser4124fs) rs1561701900
NM_032119.4(ADGRV1):c.12823C>T (p.Gln4275Ter) rs768589991
NM_032119.4(ADGRV1):c.15984del (p.Tyr5329fs) rs1554125179
NM_032119.4(ADGRV1):c.4251del (p.Lys1417fs) rs1554072688
NM_032119.4(ADGRV1):c.4702del (p.Ser1568fs) rs794727347
NM_032119.4(ADGRV1):c.627del (p.Gly210fs) rs1554063934
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) rs121909762
NM_032119.4(ADGRV1):c.8204del (p.Asn2735fs) rs794727584

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