ClinVar Miner

List of variants in gene ADGRV1 reported as pathogenic

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Gene type:
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Total variants: 62
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HGVS dbSNP
NC_000005.10:g.(?_90614729)_(90784051_?)del
NC_000005.10:g.90627718del
NC_000005.10:g.90706284C>T
NG_007083.1:g.371658_507674del
NM_032119.3(ADGRV1):c.(?_4379)_(4752_?)del (p.(?))
NM_032119.4(ADGRV1):c.(?_18153)-15_*(15_?)del
NM_032119.4(ADGRV1):c.10056_10059ACAA[1] (p.Thr3354fs) rs727504978
NM_032119.4(ADGRV1):c.10213C>T (p.Arg3405Ter) rs763670293
NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg) rs1060499795
NM_032119.4(ADGRV1):c.1055C>T (p.Pro352Leu)
NM_032119.4(ADGRV1):c.10736_10737del (p.Ala3579fs) rs1307312865
NM_032119.4(ADGRV1):c.11122-1G>C rs1561660434
NM_032119.4(ADGRV1):c.11122-2A>G rs1057517741
NM_032119.4(ADGRV1):c.11253C>G (p.Tyr3751Ter) rs376689763
NM_032119.4(ADGRV1):c.11410C>T (p.Arg3804Ter) rs767570081
NM_032119.4(ADGRV1):c.12197_12209delinsTGGGA (p.Gly4066fs) rs1554107590
NM_032119.4(ADGRV1):c.12368dup (p.Ser4124fs) rs1561701900
NM_032119.4(ADGRV1):c.12631C>T (p.Arg4211Ter) rs727504777
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter) rs777309662
NM_032119.4(ADGRV1):c.12823C>T (p.Gln4275Ter) rs768589991
NM_032119.4(ADGRV1):c.14315C>G (p.Ser4772Ter) rs1561740143
NM_032119.4(ADGRV1):c.14885G>A (p.Trp4962Ter) rs876657694
NM_032119.4(ADGRV1):c.14973-2A>G rs371981035
NM_032119.4(ADGRV1):c.15984del (p.Tyr5329fs) rs1554125179
NM_032119.4(ADGRV1):c.1608C>G (p.Tyr536Ter) rs1561416879
NM_032119.4(ADGRV1):c.16114G>T (p.Glu5372Ter) rs377650415
NM_032119.4(ADGRV1):c.1701del (p.Leu568fs) rs876657695
NM_032119.4(ADGRV1):c.17062C>T (p.Arg5688Ter) rs747622607
NM_032119.4(ADGRV1):c.17137del (p.Ala5713fs) rs1554135663
NM_032119.4(ADGRV1):c.17200G>T (p.Glu5734Ter) rs1561843914
NM_032119.4(ADGRV1):c.17303_17315del (p.Gly5768fs) rs727504644
NM_032119.4(ADGRV1):c.17314C>T (p.Arg5772Ter) rs749956288
NM_032119.4(ADGRV1):c.17662del (p.Ser5888fs) rs397517426
NM_032119.4(ADGRV1):c.17668_17669del (p.Met5890fs) rs757696771
NM_032119.4(ADGRV1):c.18131A>G (p.Tyr6044Cys) rs121909763
NM_032119.4(ADGRV1):c.18732_18750del (p.Gly6243_Tyr6244insTer) rs796051865
NM_032119.4(ADGRV1):c.2258_2270del (p.Gln753fs) rs796051866
NM_032119.4(ADGRV1):c.2302G>T (p.Glu768Ter) rs1554068885
NM_032119.4(ADGRV1):c.2320G>T (p.Gly774Ter) rs1561441451
NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter) rs373780305
NM_032119.4(ADGRV1):c.2870dup (p.Asn957fs) rs397517429
NM_032119.4(ADGRV1):c.2898G>A (p.Glu966=) rs1060499796
NM_032119.4(ADGRV1):c.4251del (p.Lys1417fs) rs1554072688
NM_032119.4(ADGRV1):c.4702del (p.Ser1568fs) rs794727347
NM_032119.4(ADGRV1):c.5357_5358del (p.Lys1786fs) rs796051867
NM_032119.4(ADGRV1):c.5643del (p.Tyr1882fs) rs727503076
NM_032119.4(ADGRV1):c.5779_5783dup (p.Ser1928fs) rs730880369
NM_032119.4(ADGRV1):c.627del (p.Gly210fs) rs1554063934
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) rs121909762
NM_032119.4(ADGRV1):c.7006C>T (p.Arg2336Ter) rs527236133
NM_032119.4(ADGRV1):c.7129C>T (p.Arg2377Ter) rs758718347
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.7606G>T (p.Glu2536Ter) rs886039893
NM_032119.4(ADGRV1):c.7885G>T (p.Gly2629Ter) rs1561543496
NM_032119.4(ADGRV1):c.8204del (p.Asn2735fs) rs794727584
NM_032119.4(ADGRV1):c.8495C>A (p.Ser2832Ter) rs121909761
NM_032119.4(ADGRV1):c.8713_8716dup (p.Ile2906fs) rs796051863
NM_032119.4(ADGRV1):c.8737del (p.Val2913fs) rs397517441
NM_032119.4(ADGRV1):c.8790del (p.Met2931fs) rs796051864
NM_032119.4(ADGRV1):c.956dup (p.Asn319fs) rs752179149
NM_032119.4(ADGRV1):c.9877C>T (p.Arg3293Ter) rs769215629

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