ClinVar Miner

List of variants in gene PCNT reported as pathogenic for microcephalic osteodysplastic primordial dwarfism

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_006031.6(PCNT):c.1468C>T (p.Gln490Ter) rs181690344 0.00002
NM_006031.6(PCNT):c.3465-1G>A rs755084205 0.00002
NM_006031.6(PCNT):c.3880G>T (p.Glu1294Ter) rs1359618876 0.00002
NM_006031.6(PCNT):c.5992C>T (p.Gln1998Ter) rs757577162 0.00002
NM_006031.6(PCNT):c.2728C>T (p.Gln910Ter) rs869312917 0.00001
NM_006031.6(PCNT):c.3594_3598dup (p.Leu1200fs) rs869312929 0.00001
NM_006031.6(PCNT):c.3840G>C (p.Gln1280His) rs1569239749 0.00001
NM_006031.6(PCNT):c.5767C>T (p.Arg1923Ter) rs119479062 0.00001
NM_006031.6(PCNT):c.8752C>T (p.Arg2918Ter) rs119479064 0.00001
NM_006031.6(PCNT):c.8868dup (p.Ala2957fs) rs587784320 0.00001
NM_006031.6(PCNT):c.8917C>T (p.Arg2973Ter) rs587784321 0.00001
NM_006031.6(PCNT):c.1032+1G>A rs1569178877
NM_006031.6(PCNT):c.1164_1165del (p.Arg388fs)
NM_006031.6(PCNT):c.1435del (p.Thr479fs) rs2084270803
NM_006031.6(PCNT):c.1444C>T (p.Gln482Ter) rs2146626308
NM_006031.6(PCNT):c.1528dup (p.Thr510fs) rs1369869782
NM_006031.6(PCNT):c.1680-2A>G rs1555954786
NM_006031.6(PCNT):c.1714_1717del (p.Lys572fs) rs797045875
NM_006031.6(PCNT):c.1887del (p.Ala630fs) rs397509366
NM_006031.6(PCNT):c.196G>T (p.Gly66Ter) rs587779355
NM_006031.6(PCNT):c.1975dup (p.Asp659fs) rs1555956600
NM_006031.6(PCNT):c.2374C>T (p.Arg792Ter) rs151020551
NM_006031.6(PCNT):c.2407C>T (p.Gln803Ter) rs1569201595
NM_006031.6(PCNT):c.2984_2994del (p.Ala995fs) rs587784302
NM_006031.6(PCNT):c.3058A>T (p.Lys1020Ter) rs1555962301
NM_006031.6(PCNT):c.3109G>T (p.Glu1037Ter) rs119479063
NM_006031.6(PCNT):c.3460G>T (p.Glu1154Ter) rs387906928
NM_006031.6(PCNT):c.3465-1G>C rs755084205
NM_006031.6(PCNT):c.3568dup (p.Cys1190fs) rs397514033
NM_006031.6(PCNT):c.398del (p.Phe133fs) rs1131691484
NM_006031.6(PCNT):c.4655C>A (p.Ser1552Ter) rs915028258
NM_006031.6(PCNT):c.4938_4939del (p.Arg1646fs) rs797045879
NM_006031.6(PCNT):c.4974_4977del (p.Lys1659fs) rs2147503631
NM_006031.6(PCNT):c.5020G>T (p.Glu1674Ter) rs587784308
NM_006031.6(PCNT):c.5059_5060del (p.Asn1687fs) rs2147504920
NM_006031.6(PCNT):c.5482G>T (p.Glu1828Ter) rs1315359733
NM_006031.6(PCNT):c.5578G>T (p.Glu1860Ter) rs369195346
NM_006031.6(PCNT):c.5719C>T (p.Gln1907Ter) rs2086794191
NM_006031.6(PCNT):c.5727_5736del (p.Leu1910fs) rs587784312
NM_006031.6(PCNT):c.658G>T (p.Glu220Ter) rs119479061
NM_006031.6(PCNT):c.7126C>T (p.Gln2376Ter) rs1555993038
NM_006031.6(PCNT):c.7511del (p.Lys2504fs) rs2147940284
NM_006031.6(PCNT):c.7796del (p.Leu2599fs) rs587784319
NM_006031.6(PCNT):c.7804G>T (p.Glu2602Ter) rs1555999948
NM_006031.6(PCNT):c.8107C>T (p.Arg2703Ter) rs758298374
NM_006031.6(PCNT):c.8223_8224del (p.Glu2742fs) rs2087769756
NM_006031.6(PCNT):c.844dup (p.Glu282fs) rs1601795448
NM_006031.6(PCNT):c.8695C>T (p.Gln2899Ter)
NM_006031.6(PCNT):c.8752-2A>C rs1394951912
NM_006031.6(PCNT):c.9457AAG[1] (p.Lys3154del) rs2148093442
NM_006031.6(PCNT):c.9535dup (p.Val3179fs) rs747058622
NM_006031.6(PCNT):c.9700+1G>A rs2148115298
PCNT, 486-BP DEL, NT84

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