ClinVar Miner

List of variants in gene ADGRV1 reported as likely pathogenic for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344 0.00668
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp) rs200945405 0.00159
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val) rs200789563 0.00036
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln) rs200792658 0.00036
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.12436C>T (p.Arg4146Ter) rs369793306 0.00003
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His) rs371947306 0.00003
NM_032119.4(ADGRV1):c.17314C>T (p.Arg5772Ter) rs749956288 0.00003
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter) rs777309662 0.00002
NM_032119.4(ADGRV1):c.1055C>T (p.Pro352Leu) rs765574676 0.00001
NM_032119.4(ADGRV1):c.13232-1G>A rs764583867 0.00001
NM_032119.4(ADGRV1):c.13654-5C>T rs367554300 0.00001
NM_032119.4(ADGRV1):c.14972+1G>T rs780011571 0.00001
NM_032119.4(ADGRV1):c.9749-2del rs1751549898 0.00001
NM_032119.4(ADGRV1):c.9907-1G>A rs769286352 0.00001
NC_000005.9:g.(89914999_89918413)_(89954096_89968362)del
NC_000005.9:g.(89988604_89989706)_(90074915_90077246)del
NC_000005.9:g.(90136803_90144453)_(90159675_90261231)dup
NC_000005.9:g.(90150019_90151557)_(90151719_90159573)del
NM_032119.3:c.16079-1455_c.16196+155del
NM_032119.4(ADGRV1):c.10075G>T (p.Glu3359Ter)
NM_032119.4(ADGRV1):c.10198C>T (p.Gln3400Ter)
NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg) rs1060499795
NM_032119.4(ADGRV1):c.10974+1G>A rs1754560628
NM_032119.4(ADGRV1):c.12380_12381del (p.Glu4127fs) rs2150063224
NM_032119.4(ADGRV1):c.1239-8C>G rs869312178
NM_032119.4(ADGRV1):c.12403+1G>T rs527236132
NM_032119.4(ADGRV1):c.12697dup (p.Ser4233fs) rs1758488956
NM_032119.4(ADGRV1):c.13156del (p.Val4386fs)
NM_032119.4(ADGRV1):c.13273_13280del (p.Leu4425fs)
NM_032119.4(ADGRV1):c.14119G>T (p.Asp4707Tyr) rs1057519383
NM_032119.4(ADGRV1):c.14315C>A (p.Ser4772Ter) rs1561740143
NM_032119.4(ADGRV1):c.14517G>C (p.Gln4839His) rs1554117973
NM_032119.4(ADGRV1):c.15736C>T (p.Arg5246Ter) rs527236131
NM_032119.4(ADGRV1):c.16129G>T (p.Gly5377Ter) rs1561790371
NM_032119.4(ADGRV1):c.16196+1G>T rs1326895760
NM_032119.4(ADGRV1):c.16197-1G>T rs1561805689
NM_032119.4(ADGRV1):c.16436del (p.Asn5479fs) rs1764301206
NM_032119.4(ADGRV1):c.17518del (p.Tyr5840fs) rs1766797963
NM_032119.4(ADGRV1):c.18646del (p.Ala6216fs)
NM_032119.4(ADGRV1):c.2680del (p.Ser894fs) rs1580567084
NM_032119.4(ADGRV1):c.2898+2T>C
NM_032119.4(ADGRV1):c.2898G>A (p.Glu966=) rs1060499796
NM_032119.4(ADGRV1):c.3941T>A (p.Leu1314Ter)
NM_032119.4(ADGRV1):c.4271G>A (p.Trp1424Ter) rs2149468550
NM_032119.4(ADGRV1):c.4391T>G (p.Leu1464Arg) rs1580624630
NM_032119.4(ADGRV1):c.4752+2T>G rs774386059
NM_032119.4(ADGRV1):c.5665-231C>T
NM_032119.4(ADGRV1):c.5944dup (p.Ser1982fs) rs1554081619
NM_032119.4(ADGRV1):c.6219_6228dup (p.Glu2077fs)
NM_032119.4(ADGRV1):c.6610C>T (p.Gln2204Ter) rs1053590019
NM_032119.4(ADGRV1):c.6778C>T (p.Arg2260Ter)
NM_032119.4(ADGRV1):c.7006C>T (p.Arg2336Ter) rs527236133
NM_032119.4(ADGRV1):c.7610del (p.Ser2537fs) rs2149642220
NM_032119.4(ADGRV1):c.8807C>G (p.Ser2936Ter) rs1554090072
NM_032119.4(ADGRV1):c.8838dup (p.Thr2947fs) rs2149715612
NM_032119.4(ADGRV1):c.9208G>T (p.Asp3070Tyr) rs1580845586

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