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
NM_032119.4(ADGRV1):c.10088_10091del (p.Val3363fs)
NM_032119.4(ADGRV1):c.10736_10737del (p.Ala3579fs) rs1307312865
NM_032119.4(ADGRV1):c.10873C>G (p.Leu3625Val) rs761066341
NM_032119.4(ADGRV1):c.10940del (p.Asn3647fs)
NM_032119.4(ADGRV1):c.11484_11487del (p.Asn3828fs)
NM_032119.4(ADGRV1):c.12497C>G (p.Ser4166Ter)
NM_032119.4(ADGRV1):c.12697dup (p.Ser4233fs)
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter) rs777309662
NM_032119.4(ADGRV1):c.13336G>A (p.Gly4446Arg) rs542716344
NM_032119.4(ADGRV1):c.13681T>G (p.Ser4561Ala)
NM_032119.4(ADGRV1):c.13772C>T (p.Thr4591Ile)
NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp) rs1131691924
NM_032119.4(ADGRV1):c.14623G>A (p.Ala4875Thr)
NM_032119.4(ADGRV1):c.14837-8T>C
NM_032119.4(ADGRV1):c.14973-2A>G rs371981035
NM_032119.4(ADGRV1):c.15471C>T (p.Ser5157=) rs146082509
NM_032119.4(ADGRV1):c.15987C>T (p.Tyr5329=) rs142097643
NM_032119.4(ADGRV1):c.16436del (p.Asn5479fs)
NM_032119.4(ADGRV1):c.16940del (p.Val5647fs)
NM_032119.4(ADGRV1):c.17987G>T (p.Trp5996Leu) rs544077645
NM_032119.4(ADGRV1):c.18217G>A (p.Val6073Met)
NM_032119.4(ADGRV1):c.2277T>A (p.Tyr759Ter)
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp) rs200945405
NM_032119.4(ADGRV1):c.4072T>C (p.Ser1358Pro)
NM_032119.4(ADGRV1):c.4880T>C (p.Phe1627Ser)
NM_032119.4(ADGRV1):c.5042G>C (p.Ser1681Thr)
NM_032119.4(ADGRV1):c.5110+4A>G
NM_032119.4(ADGRV1):c.5500_5503TTCC[1] (p.Leu1835fs) rs878853348
NM_032119.4(ADGRV1):c.5784C>G (p.Ser1928Arg)
NM_032119.4(ADGRV1):c.6017G>T (p.Gly2006Val)
NM_032119.4(ADGRV1):c.6849C>T (p.Gly2283=)
NM_032119.4(ADGRV1):c.7150C>G (p.Arg2384Gly)
NM_032119.4(ADGRV1):c.7519A>G (p.Thr2507Ala)
NM_032119.4(ADGRV1):c.8155+3G>C
NM_032119.4(ADGRV1):c.8226T>G (p.Ile2742Met)
NM_032119.4(ADGRV1):c.8749G>T (p.Glu2917Ter)
NM_032119.4(ADGRV1):c.956dup (p.Asn319fs) rs752179149
NM_032119.4(ADGRV1):c.9661G>A (p.Val3221Met) rs368092861
NM_032119.4(ADGRV1):c.9877C>T (p.Arg3293Ter) rs769215629
NM_032119.4(ADGRV1):c.9906+1G>A
NM_032119.4(ADGRV1):c.9907-1G>A

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