ClinVar Miner

List of variants in gene combination NPHP3, NPHP3-ACAD11 reported as likely pathogenic for NPHP3-related Meckel-like syndrome

Included ClinVar conditions (2):

Meckel syndrome type 7
Renal-hepatic-pancreatic dysplasia 1; Adolescent nephronophthisis; Meckel syndrome type 7

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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 1

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HGVS	dbSNP
NM_153240.5(NPHP3):c.2342G>A (p.Gly781Asp)	rs781180515

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