List of variants in gene ADGRV1 reported as likely pathogenic for Usher syndrome type 2C

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
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.13232-1G>A	rs764583867	0.00001
NM_032119.4(ADGRV1):c.14972+1G>T	rs780011571	0.00001
NM_032119.4(ADGRV1):c.9907-1G>A	rs769286352	0.00001
NM_032119.3:c.16079-1455_c.16196+155del
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.14315C>A (p.Ser4772Ter)	rs1561740143
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.16197-1G>T	rs1561805689
NM_032119.4(ADGRV1):c.17518del (p.Tyr5840fs)	rs1766797963
NM_032119.4(ADGRV1):c.2680del (p.Ser894fs)	rs1580567084
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.6610C>T (p.Gln2204Ter)	rs1053590019
NM_032119.4(ADGRV1):c.7006C>T (p.Arg2336Ter)	rs527236133
NM_032119.4(ADGRV1):c.7610del (p.Ser2537fs)	rs2149642220
NM_032119.4(ADGRV1):c.8838dup (p.Thr2947fs)	rs2149715612
NM_032119.4(ADGRV1):c.9208G>T (p.Asp3070Tyr)	rs1580845586

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