List of variants reported as uncertain significance for pycnodysostosis by Genome-Nilou Lab

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000396.4(CTSK):c.-1-9C>T	rs200480574	0.00083
NM_000396.4(CTSK):c.812G>A (p.Ser271Asn)	rs183135762	0.00016
NM_000396.4(CTSK):c.814G>A (p.Asp272Asn)	rs201772791	0.00004
NM_000396.4(CTSK):c.375A>G (p.Gly125=)	rs766065317	0.00002
NM_000396.4(CTSK):c.578G>A (p.Arg193Gln)	rs781168584	0.00002
NM_000396.4(CTSK):c.551A>G (p.Asn184Ser)	rs774888582	0.00001
NM_000396.4(CTSK):c.263A>C (p.Gln88Pro)	rs762212949
NM_000396.4(CTSK):c.577C>T (p.Arg193Trp)	rs747914097
NM_000396.4(CTSK):c.633G>A (p.Met211Ile)

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