List of variants in gene combination AQP2, AQP5 reported as pathogenic for impaired renal function disease

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_000486.6(AQP2):c.439G>A (p.Ala147Thr)	rs104894334	0.00008
NM_000486.6(AQP2):c.559C>T (p.Arg187Cys)	rs104894328	0.00005
NM_000486.6(AQP2):c.785C>T (p.Pro262Leu)	rs104894339	0.00004
NM_000486.6(AQP2):c.374C>T (p.Thr125Met)	rs104894333	0.00002
NM_000486.6(AQP2):c.377C>T (p.Thr126Met)	rs104894330	0.00001
NM_000486.6(AQP2):c.369del (p.Asn123fs)	rs1565636541
NM_000486.6(AQP2):c.375del (p.Thr126fs)	rs764380594
NM_000486.6(AQP2):c.523G>A (p.Gly175Arg)	rs104894335
NM_000486.6(AQP2):c.543C>G (p.Cys181Trp)	rs104894337
NM_000486.6(AQP2):c.568G>A (p.Ala190Thr)	rs104894341
NM_000486.6(AQP2):c.646T>C (p.Ser216Pro)	rs104894329
NM_000486.6(AQP2):c.721del (p.Glu241fs)	rs1565637179
NM_000486.6(AQP2):c.727del (p.Asp243fs)	rs1565637189
NM_000486.6(AQP2):c.772G>A (p.Glu258Lys)	rs104894332
NM_000486.6(AQP2):c.797_*17del (p.Pro266fs)	rs1947362334

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