ClinVar Miner

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

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_032119.4(ADGRV1):c.327C>T (p.Asp109=) rs61753944 0.02377
NM_032119.4(ADGRV1):c.8876G>A (p.Arg2959Gln) rs73175207 0.02358
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr) rs41311343 0.02332
NM_032119.4(ADGRV1):c.581C>A (p.Pro194His) rs61745498 0.02028
NM_032119.4(ADGRV1):c.5304G>A (p.Glu1768=) rs41303346 0.01390
NM_032119.4(ADGRV1):c.7293C>T (p.Ala2431=) rs77791584 0.01133
NM_032119.4(ADGRV1):c.8407G>A (p.Ala2803Thr) rs111033530 0.01127
NM_032119.4(ADGRV1):c.3559A>G (p.Ile1187Val) rs16868935 0.01001
NM_032119.4(ADGRV1):c.11031C>T (p.Asn3677=) rs75480336 0.00991
NM_032119.4(ADGRV1):c.1839+7G>A rs142011700 0.00957
NM_032119.4(ADGRV1):c.1817A>C (p.Asn606Thr) rs61749567 0.00937
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750 0.00844
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His) rs111033470 0.00784
NM_032119.4(ADGRV1):c.7179C>T (p.Asp2393=) rs111033429 0.00767
NM_032119.4(ADGRV1):c.10769+9A>G rs116184119 0.00645
NM_032119.4(ADGRV1):c.2553+11T>A rs73181640 0.00580
NM_032119.4(ADGRV1):c.4260A>G (p.Glu1420=) rs61740119 0.00542
NM_032119.4(ADGRV1):c.9607T>A (p.Ser3203Thr) rs116480183 0.00517
NM_032119.4(ADGRV1):c.-67A>T rs150816712 0.00511
NM_032119.4(ADGRV1):c.3482C>G (p.Ser1161Cys) rs147062294 0.00492
NM_032119.4(ADGRV1):c.5525-7C>T rs137853919 0.00429
NM_032119.4(ADGRV1):c.4254T>C (p.Tyr1418=) rs149459739 0.00414
NM_032119.4(ADGRV1):c.3956G>A (p.Arg1319Gln) rs73181648 0.00381
NM_032119.4(ADGRV1):c.6318G>A (p.Ala2106=) rs190981860 0.00381
NM_032119.4(ADGRV1):c.6383G>A (p.Arg2128Gln) rs149390094 0.00330
NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=) rs137853918 0.00316
NM_032119.4(ADGRV1):c.8133C>T (p.Ser2711=) rs116446814 0.00299
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser) rs201733037 0.00228
NM_032119.4(ADGRV1):c.14515C>G (p.Gln4839Glu) rs79464236 0.00178
NM_032119.4(ADGRV1):c.3303A>G (p.Val1101=) rs80069610 0.00133
NM_032119.4(ADGRV1):c.6608T>C (p.Val2203Ala) rs200055351 0.00123
NM_032119.4(ADGRV1):c.16472G>A (p.Ser5491Asn) rs199796758 0.00113
NM_032119.4(ADGRV1):c.18803-13A>G rs41305902 0.00083
NM_032119.4(ADGRV1):c.16841C>T (p.Thr5614Ile) rs149544995 0.00082
NM_032119.4(ADGRV1):c.18470A>G (p.Asn6157Ser) rs200111522 0.00075
NM_032119.4(ADGRV1):c.6086C>T (p.Pro2029Leu) rs200854813 0.00074
NM_032119.4(ADGRV1):c.2241-10A>T rs150996234 0.00047
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val) rs200512504 0.00037
NM_032119.4(ADGRV1):c.6187T>C (p.Leu2063=) rs75019370 0.00036
NM_032119.4(ADGRV1):c.208-4A>G rs374070113 0.00034
NM_032119.4(ADGRV1):c.2734+18T>G rs372642748 0.00022
NM_032119.4(ADGRV1):c.8064C>T (p.Ser2688=) rs75195840 0.00013
NM_032119.4(ADGRV1):c.13654-5C>T rs367554300 0.00001
NM_032119.4(ADGRV1):c.11115A>T (p.Ser3705=) rs138029547
NM_032119.4(ADGRV1):c.13590C>T (p.Pro4530=) rs41311745
NM_032119.4(ADGRV1):c.18803-4G>T rs80335659
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn) rs41302834

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