ClinVar Miner

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

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_006031.6(PCNT):c.6384A>G (p.Thr2128=) rs60444527 0.18604
NM_006031.6(PCNT):c.4962+10G>A rs114474454 0.01225
NM_006031.6(PCNT):c.6616A>G (p.Thr2206Ala) rs9981448 0.00833
NM_006031.6(PCNT):c.8065-19G>A rs78561636 0.00750
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783 0.00733
NM_006031.6(PCNT):c.8924T>C (p.Leu2975Pro) rs35881595 0.00647
NM_006031.6(PCNT):c.8752-5A>C rs149444205 0.00573
NM_006031.6(PCNT):c.6634C>T (p.Arg2212Trp) rs144471022 0.00516
NM_006031.6(PCNT):c.9099+12G>A rs140828051 0.00457
NM_006031.6(PCNT):c.4285C>T (p.Arg1429Cys) rs62224222 0.00437
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu) rs139432601 0.00379
NM_006031.6(PCNT):c.6933C>T (p.Val2311=) rs148444313 0.00289
NM_006031.6(PCNT):c.1784C>T (p.Ala595Val) rs143028464 0.00265
NM_006031.6(PCNT):c.3748C>T (p.Arg1250Trp) rs117987006 0.00257
NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln) rs113591604 0.00249
NM_006031.6(PCNT):c.7495-13A>G rs114588443 0.00240
NM_006031.6(PCNT):c.8224G>C (p.Glu2742Gln) rs35557109 0.00238
NM_006031.6(PCNT):c.4142C>T (p.Ala1381Val) rs114383833 0.00221
NM_006031.6(PCNT):c.9700+10C>T rs199917135 0.00195
NM_006031.6(PCNT):c.5614G>A (p.Glu1872Lys) rs112853262 0.00182
NM_006031.6(PCNT):c.9247C>T (p.His3083Tyr) rs143289533 0.00179
NM_006031.6(PCNT):c.1519C>G (p.Arg507Gly) rs138036524 0.00165
NM_006031.6(PCNT):c.5872C>G (p.His1958Asp) rs189308172 0.00163
NM_006031.6(PCNT):c.6080A>G (p.Gln2027Arg) rs147189224 0.00157
NM_006031.6(PCNT):c.6125G>A (p.Arg2042His) rs149264703 0.00151
NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg) rs143796569 0.00149
NM_006031.6(PCNT):c.9949T>C (p.Leu3317=) rs111389121 0.00148
NM_006031.6(PCNT):c.3457A>G (p.Ser1153Gly) rs140424584 0.00093
NM_006031.6(PCNT):c.2033A>G (p.Lys678Arg) rs149623054 0.00088
NM_006031.6(PCNT):c.4675A>T (p.Met1559Leu) rs180775012 0.00074
NM_006031.6(PCNT):c.4140G>A (p.Ala1380=) rs372175239 0.00068
NM_006031.6(PCNT):c.5815C>T (p.Arg1939Trp) rs575313866 0.00060
NM_006031.6(PCNT):c.6151-9C>T rs200571944 0.00059
NM_006031.6(PCNT):c.2833C>T (p.Arg945Cys) rs147358856 0.00043
NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr) rs138962786 0.00041
NM_006031.6(PCNT):c.2264T>G (p.Met755Arg) rs201827977 0.00039
NM_006031.6(PCNT):c.7259C>T (p.Pro2420Leu) rs144633170 0.00038
NM_006031.6(PCNT):c.8835C>T (p.Asp2945=) rs146875945 0.00031
NM_006031.6(PCNT):c.4222C>T (p.Arg1408Trp) rs202161810 0.00029
NM_006031.6(PCNT):c.9967+18C>T rs369414311 0.00029
NM_006031.6(PCNT):c.6277G>A (p.Asp2093Asn) rs200303861 0.00020
NM_006031.6(PCNT):c.6819G>A (p.Gly2273=) rs200610141 0.00018
NM_006031.6(PCNT):c.1040A>G (p.Lys347Arg) rs80166001 0.00017
NM_006031.6(PCNT):c.6150+3G>A rs760779996 0.00016
NM_006031.6(PCNT):c.8401G>C (p.Val2801Leu) rs138868039 0.00016
NM_006031.6(PCNT):c.7459C>G (p.Leu2487Val) rs201185279 0.00014
NM_006031.6(PCNT):c.4554C>T (p.Arg1518=) rs751932532 0.00013
NM_006031.6(PCNT):c.5826G>A (p.Arg1942=) rs536281306 0.00012
NM_006031.6(PCNT):c.7413G>A (p.Glu2471=) rs191561981 0.00012
NM_006031.6(PCNT):c.4775T>G (p.Val1592Gly) rs141276542 0.00011
NM_006031.6(PCNT):c.1155A>G (p.Ala385=) rs201944549 0.00009
NM_006031.6(PCNT):c.406G>A (p.Gly136Ser) rs59183158 0.00008
NM_006031.6(PCNT):c.5724G>A (p.Gln1908=) rs199519762 0.00006
NM_006031.6(PCNT):c.9279G>A (p.Ser3093=) rs199596313 0.00006
NM_006031.6(PCNT):c.7006G>A (p.Ala2336Thr) rs144612972 0.00005
NM_006031.6(PCNT):c.5647C>T (p.Arg1883Trp) rs746468689 0.00004
NM_006031.6(PCNT):c.6458A>G (p.Asn2153Ser) rs758705082 0.00003
NM_006031.6(PCNT):c.2865C>T (p.Ala955=) rs540548340 0.00002
NM_006031.6(PCNT):c.5994+17G>A rs570628453 0.00002
NM_006031.6(PCNT):c.7045G>C (p.Ala2349Pro) rs772025323 0.00002
NM_006031.6(PCNT):c.7167G>A (p.Pro2389=) rs745406750 0.00002
NM_006031.6(PCNT):c.9174G>A (p.Ala3058=) rs554275370 0.00002
NM_006031.6(PCNT):c.1335A>G (p.Lys445=) rs771882821 0.00001
NM_006031.6(PCNT):c.3030G>A (p.Thr1010=) rs752831769 0.00001
NM_006031.6(PCNT):c.3698A>C (p.Glu1233Ala) rs199787861 0.00001
NM_006031.6(PCNT):c.517A>G (p.Thr173Ala) rs535358423 0.00001
NM_006031.6(PCNT):c.5975C>T (p.Pro1992Leu) rs758977418 0.00001
NM_006031.6(PCNT):c.7104T>C (p.Pro2368=) rs576187743 0.00001
NM_006031.6(PCNT):c.*101T>G rs138450666
NM_006031.6(PCNT):c.*343_*346del rs145379994
NM_006031.6(PCNT):c.1083A>G (p.Leu361=) rs758561093
NM_006031.6(PCNT):c.1344+2T>C
NM_006031.6(PCNT):c.1438A>G (p.Ser480Gly)
NM_006031.6(PCNT):c.1457-12G>A rs756968448
NM_006031.6(PCNT):c.1542C>T (p.Ser514=) rs2249057
NM_006031.6(PCNT):c.1971C>T (p.Asp657=)
NM_006031.6(PCNT):c.2062C>T (p.Leu688Phe)
NM_006031.6(PCNT):c.4571C>G (p.Pro1524Arg) rs35513449
NM_006031.6(PCNT):c.467_505del (p.His156_Gln168del) rs587784306
NM_006031.6(PCNT):c.467_505dup (p.His156_Gln168dup) rs587784306
NM_006031.6(PCNT):c.5505G>A (p.Leu1835=)
NM_006031.6(PCNT):c.597A>T (p.Thr199=)
NM_006031.6(PCNT):c.5982C>G (p.Val1994=) rs552463011
NM_006031.6(PCNT):c.7199G>A (p.Arg2400His)
NM_006031.6(PCNT):c.7G>C (p.Val3Leu) rs1175937762
NM_006031.6(PCNT):c.8906G>A (p.Arg2969Gln)
NM_006031.6(PCNT):c.924G>A (p.Glu308=) rs146178359
NM_006031.6(PCNT):c.9394-3T>C rs545618955

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