ClinVar Miner

List of variants in gene ADGRV1 reported by Ocular Genomics Institute, Massachusetts Eye and Ear

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln) rs201747452 0.00045
NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys) rs138908576 0.00020
NM_032119.4(ADGRV1):c.17668_17669del (p.Met5890fs) rs757696771 0.00006
NM_032119.4(ADGRV1):c.14972+1G>T rs780011571 0.00001
NM_032119.4(ADGRV1):c.7400C>T (p.Thr2467Ile) rs1746861436 0.00001
NM_032119.4(ADGRV1):c.10264G>C (p.Ala3422Pro) rs2149812991
NM_032119.4(ADGRV1):c.11458C>A (p.Pro3820Thr) rs2149973588
NM_032119.4(ADGRV1):c.12380_12381del (p.Glu4127fs) rs2150063224
NM_032119.4(ADGRV1):c.14494G>A (p.Asp4832Asn) rs2150136010
NM_032119.4(ADGRV1):c.5830G>T (p.Asp1944Tyr) rs41302834

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