List of variants in gene AVPR2 reported as pathogenic by Athena Diagnostics Inc

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000054.7(AVPR2):c.383A>C (p.Tyr128Ser)	rs781950164
NM_000054.7(AVPR2):c.441dup (p.Tyr148fs)	rs1603282111
NM_000054.7(AVPR2):c.554del (p.Gly185fs)	rs193922116
NM_000054.7(AVPR2):c.911-2A>G	rs1569545567

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