List of variants in gene ADGRV1 reported as likely pathogenic by Blueprint Genetics

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_032119.4(ADGRV1):c.14973-2A>G	rs371981035	0.00009
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.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.16436del (p.Asn5479fs)	rs1764301206
NM_032119.4(ADGRV1):c.16940del (p.Val5647fs)	rs1364707671
NM_032119.4(ADGRV1):c.2277T>A (p.Tyr759Ter)	rs1185617030
NM_032119.4(ADGRV1):c.8749G>T (p.Glu2917Ter)	rs1748947002
NM_032119.4(ADGRV1):c.9877C>T (p.Arg3293Ter)	rs769215629

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