ClinVar Miner

List of variants in gene PPIB, SNX22 studied for bone disorder

Included ClinVar conditions (1350):
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Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000942.5(PPIB):c.529-21G>A rs2253557 0.88009
NM_000942.5(PPIB):c.*21T>A rs2307248 0.01302
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 0.00008
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.556_559del (p.Lys186fs) rs137853869 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.509G>A (p.Gly170Asp) rs199606428 0.00001
NM_000942.5(PPIB):c.*190T>G rs113626158
NM_000942.5(PPIB):c.399_401dup (p.Gly134dup) rs886039912
NM_000942.5(PPIB):c.434_435del (p.Lys145fs) rs1211592084
NM_000942.5(PPIB):c.444C>T (p.Asn148=) rs549542551
NM_000942.5(PPIB):c.451C>T (p.Gln151Ter) rs121434559
NM_000942.5(PPIB):c.528+1G>C rs1228817029
NM_000942.5(PPIB):c.563_566del (p.Asp188fs) rs398122834
NM_000942.5(PPIB):c.615C>T (p.Ile205=) rs1596027267
NM_000942.5(PPIB):c.640G>T (p.Ala214Ser) rs759753798

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