ClinVar Miner

List of variants in gene ADGRV1 studied for Retinal dystrophy

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp) rs200945405 0.00159
NM_032119.4(ADGRV1):c.15471C>T (p.Ser5157=) rs146082509 0.00018
NM_032119.4(ADGRV1):c.7519A>G (p.Thr2507Ala) rs368806892 0.00012
NM_032119.4(ADGRV1):c.10873C>G (p.Leu3625Val) rs761066341 0.00009
NM_032119.4(ADGRV1):c.14973-2A>G rs371981035 0.00009
NM_032119.4(ADGRV1):c.13772C>T (p.Thr4591Ile) rs369108080 0.00006
NM_032119.4(ADGRV1):c.15987C>T (p.Tyr5329=) rs142097643 0.00006
NM_032119.4(ADGRV1):c.6849C>T (p.Gly2283=) rs374348614 0.00006
NM_032119.4(ADGRV1):c.9661G>A (p.Val3221Met) rs368092861 0.00006
NM_032119.4(ADGRV1):c.18217G>A (p.Val6073Met) rs377173958 0.00005
NM_032119.4(ADGRV1):c.4880T>C (p.Phe1627Ser) rs367588475 0.00005
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter) rs777309662 0.00002
NM_032119.4(ADGRV1):c.13336G>A (p.Gly4446Arg) rs542716344 0.00002
NM_032119.4(ADGRV1):c.5042G>C (p.Ser1681Thr) rs781456737 0.00002
NM_032119.4(ADGRV1):c.12497C>G (p.Ser4166Ter) rs778188580 0.00001
NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp) rs1131691924 0.00001
NM_032119.4(ADGRV1):c.9907-1G>A rs769286352 0.00001
NM_032119.4(ADGRV1):c.10088_10091del (p.Val3363fs) rs1292664749
NM_032119.4(ADGRV1):c.10736_10737del (p.Ala3579fs) rs1307312865
NM_032119.4(ADGRV1):c.10940del (p.Asn3647fs) rs1754556067
NM_032119.4(ADGRV1):c.11484_11487del (p.Asn3828fs) rs1755688091
NM_032119.4(ADGRV1):c.12697dup (p.Ser4233fs) rs1758488956
NM_032119.4(ADGRV1):c.13681T>G (p.Ser4561Ala) rs1759670150
NM_032119.4(ADGRV1):c.14623G>A (p.Ala4875Thr) rs1390262736
NM_032119.4(ADGRV1):c.14837-8T>C rs1762025160
NM_032119.4(ADGRV1):c.16436del (p.Asn5479fs) rs1764301206
NM_032119.4(ADGRV1):c.16940del (p.Val5647fs) rs1364707671
NM_032119.4(ADGRV1):c.17987G>T (p.Trp5996Leu) rs544077645
NM_032119.4(ADGRV1):c.2277T>A (p.Tyr759Ter) rs1185617030
NM_032119.4(ADGRV1):c.4072T>C (p.Ser1358Pro) rs1768970487
NM_032119.4(ADGRV1):c.5110+4A>G rs772682808
NM_032119.4(ADGRV1):c.5504_5507del (p.Leu1835fs) rs878853348
NM_032119.4(ADGRV1):c.5784C>G (p.Ser1928Arg) rs199605700
NM_032119.4(ADGRV1):c.6017G>T (p.Gly2006Val) rs768201036
NM_032119.4(ADGRV1):c.7150C>G (p.Arg2384Gly) rs377475657
NM_032119.4(ADGRV1):c.8155+3G>C rs1747297515
NM_032119.4(ADGRV1):c.8226T>G (p.Ile2742Met) rs1748212128
NM_032119.4(ADGRV1):c.8749G>T (p.Glu2917Ter) rs1748947002
NM_032119.4(ADGRV1):c.956dup (p.Asn319fs) rs752179149
NM_032119.4(ADGRV1):c.9877C>T (p.Arg3293Ter) rs769215629
NM_032119.4(ADGRV1):c.9906+1G>A rs1751572548

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