List of variants reported as pathogenic by Pediatrics Genetics, Post Graduate Institute of Medical Education and Research

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His)	rs56010818	0.00008
NM_000276.4(OCRL):c.739del (p.Trp247fs)	rs2124404136
NM_001042492.3(NF1):c.6354del (p.Arg2119fs)
NM_001382391.1(CSPP1):c.1698-1G>C	rs2129554176
NM_001384732.1(CPLANE1):c.3056_3059dup (p.Trp1020fs)
NM_014191.4(SCN8A):c.697G>T (p.Val233Leu)	rs1592380699
NM_016006.6(ABHD5):c.810T>A (p.Tyr270Ter)	rs2084784131
NM_130468.4(CHST14):c.797dup (p.Tyr266Ter)	rs1595869602
NM_205850.3(SLC24A5):c.494C>G (p.Ser165Ter)

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