List of variants in gene ADGRV1 studied for Usher syndrome type 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val)	rs200789563	0.00036
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln)	rs200792658	0.00036
NM_032119.4(ADGRV1):c.14973-2A>G	rs371981035	0.00009
NM_032119.4(ADGRV1):c.5005A>G (p.Ile1669Val)	rs760285831	0.00004
NM_032119.4(ADGRV1):c.9679C>T (p.Arg3227Ter)	rs267600727	0.00002
NM_032119.4(ADGRV1):c.10458G>A (p.Trp3486Ter)	rs1580905929
NM_032119.4(ADGRV1):c.12125del (p.Met4042fs)	rs1581041519
NM_032119.4(ADGRV1):c.15494del (p.Lys5165fs)	rs1581196586
NM_032119.4(ADGRV1):c.17974-1G>C	rs1581711527
NM_032119.4(ADGRV1):c.2241-2A>G	rs929034631
NM_032119.4(ADGRV1):c.3195dup (p.Gly1066fs)	rs1767988429

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