ClinVar Miner

List of variants reported for Pyknodysostosis by Natera, Inc.

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000396.4(CTSK):c.831A>G (p.Ala277=) rs10788796 0.97527
NM_000396.4(CTSK):c.675A>G (p.Arg225=) rs41271965 0.00297
NM_000396.4(CTSK):c.399+9C>T rs188468815 0.00101
NM_000396.4(CTSK):c.-1-9C>T rs200480574 0.00083
NM_000396.4(CTSK):c.684C>T (p.Pro228=) rs142097792 0.00041
NM_000396.4(CTSK):c.169A>G (p.Ile57Val) rs201446793 0.00015
NM_000396.4(CTSK):c.22C>T (p.Leu8=) rs138360770 0.00009
NM_000396.4(CTSK):c.244-10_244-8del rs774922287 0.00009
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr) rs762780994 0.00008
NM_000396.4(CTSK):c.117C>T (p.Asn39=) rs369459638 0.00006
NM_000396.4(CTSK):c.816T>A (p.Asp272Glu) rs190892496 0.00004
NM_000396.4(CTSK):c.30T>G (p.Pro10=) rs139004720 0.00002
NM_000396.4(CTSK):c.746T>C (p.Ile249Thr) rs199919553 0.00002
NM_000396.4(CTSK):c.436G>C (p.Gly146Arg) rs74315302 0.00001
NM_000396.4(CTSK):c.8G>A (p.Gly3Glu) rs202055627 0.00001
NM_000396.4(CTSK):c.263A>C (p.Gln88Pro) rs762212949
NM_000396.4(CTSK):c.503T>C (p.Val168Ala) rs1309902734
NM_000396.4(CTSK):c.606A>G (p.Pro202=) rs1654040742
NM_000396.4(CTSK):c.721C>T (p.Arg241Ter) rs74315303

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