ClinVar Miner

List of variants in gene ADGRV1 reported as pathogenic by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_032119.4(ADGRV1):c.14973-2A>G rs371981035 0.00009
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) rs121909762 0.00004
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter) rs777309662 0.00002
NM_032119.4(ADGRV1):c.12631C>T (p.Arg4211Ter) rs727504777 0.00001
NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter) rs373780305 0.00001
NM_032119.4(ADGRV1):c.7129C>T (p.Arg2377Ter) rs758718347 0.00001
NC_000005.10:g.(?_90614729)_(90784051_?)del
NM_032119.3(ADGRV1):c.(?_4379)_(4752_?)del
NM_032119.4(ADGRV1):c.10060_10063del (p.Thr3354fs) rs727504978
NM_032119.4(ADGRV1):c.11253C>G (p.Tyr3751Ter) rs376689763
NM_032119.4(ADGRV1):c.1180del (p.Ser394fs) rs1400695342
NM_032119.4(ADGRV1):c.14885G>A (p.Trp4962Ter) rs876657694
NM_032119.4(ADGRV1):c.1701del (p.Leu568fs) rs876657695
NM_032119.4(ADGRV1):c.17303_17315del (p.Gly5768fs) rs727504644
NM_032119.4(ADGRV1):c.17662del (p.Ser5888fs) rs397517426
NM_032119.4(ADGRV1):c.2302G>T (p.Glu768Ter) rs1554068885
NM_032119.4(ADGRV1):c.2870dup (p.Asn957fs) rs397517429
NM_032119.4(ADGRV1):c.5643del (p.Tyr1882fs) rs727503076
NM_032119.4(ADGRV1):c.5779_5783dup (p.Ser1928fs) rs730880369
NM_032119.4(ADGRV1):c.7006C>T (p.Arg2336Ter) rs527236133
NM_032119.4(ADGRV1):c.7374_7375del (p.Glu2459fs) rs397517435
NM_032119.4(ADGRV1):c.7406G>A (p.Trp2469Ter) rs397517436
NM_032119.4(ADGRV1):c.8620C>T (p.Gln2874Ter) rs758834029
NM_032119.4(ADGRV1):c.8737del (p.Val2913fs) rs397517441
NM_032119.4(ADGRV1):c.9877C>T (p.Arg3293Ter) rs769215629

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