ClinVar Miner

List of variants reported as likely benign for Microcephalic osteodysplastic primordial dwarfism type II by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.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.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.4354G>A (p.Gly1452Arg) rs143796569 0.00149
NM_006031.6(PCNT):c.3457A>G (p.Ser1153Gly) rs140424584 0.00093
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.644G>A (p.Cys215Tyr) rs138962786 0.00041
NM_006031.6(PCNT):c.7259C>T (p.Pro2420Leu) rs144633170 0.00038
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.6819G>A (p.Gly2273=) rs200610141 0.00018
NM_006031.6(PCNT):c.8401G>C (p.Val2801Leu) rs138868039 0.00016
NM_006031.6(PCNT):c.4554C>T (p.Arg1518=) rs751932532 0.00013
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.7006G>A (p.Ala2336Thr) rs144612972 0.00005
NM_006031.6(PCNT):c.6458A>G (p.Asn2153Ser) rs758705082 0.00003
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.1335A>G (p.Lys445=) rs771882821 0.00001
NM_006031.6(PCNT):c.3030G>A (p.Thr1010=) rs752831769 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.1083A>G (p.Leu361=) rs758561093
NM_006031.6(PCNT):c.1438A>G (p.Ser480Gly)
NM_006031.6(PCNT):c.1457-12G>A rs756968448
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.5505G>A (p.Leu1835=)
NM_006031.6(PCNT):c.597A>T (p.Thr199=)
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.