List of variants reported as pathogenic for autosomal recessive disease by Human Molecular Genetics and Metabolic Disorders, Pakistan Institute for Engineering and Applied Science (PIEAS)

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_153240.5(NPHP3):c.424C>T (p.Arg142Ter)	rs771742823	0.00001
NM_000082.4(ERCC8):c.202A>T (p.Ile68Phe)	rs1749617646
NM_018136.5(ASPM):c.2085G>A (p.Trp695Ter)	rs1553227021
NM_018136.5(ASPM):c.3974dup (p.Tyr1325Ter)	rs1553225179
NM_018249.6(CDK5RAP2):c.5127_5128dup (p.Ser1710fs)	rs1554728351
NM_018451.5(CENPJ):c.3586G>A (p.Asp1196Asn)	rs1555294652
NM_018451.5(CENPJ):c.59G>A (p.Trp20Ter)	rs1555299107

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