ClinVar Miner

List of variants in gene combination PPIB, SNX22 reported as uncertain significance for bone disorder

Included ClinVar conditions (1436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000942.5(PPIB):c.*65G>C rs2230223 0.00140
NM_000942.5(PPIB):c.*14C>A rs201974607 0.00051
NM_000942.5(PPIB):c.*80C>T rs540855873 0.00026
NM_000942.5(PPIB):c.*154C>T rs574102477 0.00019
NM_000942.5(PPIB):c.569G>A (p.Arg190Gln) rs200864554 0.00014
NM_000942.5(PPIB):c.597C>T (p.Ile199=) rs369889089 0.00013
NM_000942.5(PPIB):c.359G>A (p.Gly120Asp) rs568378169 0.00004
NM_000942.5(PPIB):c.528+14G>A rs776724565 0.00002
NM_000942.5(PPIB):c.*12A>G rs763342854 0.00001
NM_000942.5(PPIB):c.364C>T (p.Arg122Cys) rs886051322 0.00001
NM_000942.5(PPIB):c.426C>T (p.Asn142=) rs766129397 0.00001
NM_000942.5(PPIB):c.*190T>G rs113626158
NM_000942.5(PPIB):c.399_401dup (p.Gly134_Pro135insGly) rs886039912
NM_000942.5(PPIB):c.444C>T (p.Asn148=) rs549542551
NM_000942.5(PPIB):c.640G>T (p.Ala214Ser) rs759753798

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