ClinVar Miner

List of variants reported as benign for microcephalic osteodysplastic primordial dwarfism

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 108
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006031.6(PCNT):c.8751+23dup rs5844270 1.00000
NM_006031.6(PCNT):c.2111G>A (p.Gly704Glu) rs2839223 0.88373
NM_006031.6(PCNT):c.2556T>C (p.Ala852=) rs8131546 0.88316
NM_006031.6(PCNT):c.3113T>C (p.Val1038Ala) rs6518289 0.87478
NM_006031.6(PCNT):c.2928C>G (p.Leu976=) rs2839228 0.86956
NM_006031.6(PCNT):c.2610-5C>T rs2839226 0.68609
NM_006031.6(PCNT):c.8375A>G (p.Gln2792Arg) rs2073376 0.67500
NM_006031.6(PCNT):c.7914-16C>T rs2839257 0.67468
NM_006031.6(PCNT):c.720+17T>C rs9982233 0.66904
NM_006031.6(PCNT):c.7977G>C (p.Gln2659His) rs2070426 0.48521
NM_006031.6(PCNT):c.8996+45C>A rs2236616 0.33111
NM_006031.6(PCNT):c.721-7G>A rs2839217 0.32249
NM_006031.6(PCNT):c.4197C>T (p.Asp1399=) rs3737438 0.32038
NM_006031.6(PCNT):c.4915A>G (p.Ile1639Val) rs6518291 0.31129
NM_006031.6(PCNT):c.2635A>G (p.Thr879Ala) rs2839227 0.26258
NM_006031.6(PCNT):c.6821C>T (p.Pro2274Leu) rs2070425 0.24579
NM_006031.6(PCNT):c.5522A>G (p.Asn1841Ser) rs35940413 0.21523
NM_006031.6(PCNT):c.6715T>C (p.Trp2239Arg) rs35346764 0.18919
NM_006031.6(PCNT):c.5322G>A (p.Glu1774=) rs58559714 0.18798
NM_006031.6(PCNT):c.6563T>G (p.Met2188Arg) rs1044998 0.18680
NM_006031.6(PCNT):c.7082A>G (p.Gln2361Arg) rs7277175 0.18653
NM_006031.6(PCNT):c.6290T>C (p.Leu2097Pro) rs2839245 0.18635
NM_006031.6(PCNT):c.5631C>T (p.Ile1877=) rs16979162 0.18249
NM_006031.6(PCNT):c.9735A>C (p.Arg3245Ser) rs2073380 0.17969
NM_006031.6(PCNT):c.7913+9G>C rs1023160 0.17939
NM_006031.6(PCNT):c.6927A>G (p.Lys2309=) rs2839246 0.17796
NM_006031.6(PCNT):c.6384A>G (p.Thr2128=) rs60444527 0.17763
NM_006031.6(PCNT):c.6374A>C (p.His2125Pro) rs35978208 0.17759
NM_006031.6(PCNT):c.7645G>A (p.Ala2549Thr) rs2839256 0.17759
NM_006031.6(PCNT):c.9394-4T>C rs2839260 0.14350
NM_006031.6(PCNT):c.6594T>C (p.Gly2198=) rs57108405 0.13713
NM_006031.6(PCNT):c.2415C>G (p.Ala805=) rs61407822 0.13635
NM_006031.6(PCNT):c.1616C>T (p.Thr539Ile) rs2249060 0.12966
NM_006031.6(PCNT):c.3487C>T (p.Arg1163Cys) rs7279204 0.11770
NM_006031.6(PCNT):c.8811A>G (p.Thr2937=) rs17371795 0.11349
NM_006031.6(PCNT):c.8418G>A (p.Ala2806=) rs9983522 0.11315
NM_006031.6(PCNT):c.5535G>A (p.Arg1845=) rs61735543 0.06211
NM_006031.6(PCNT):c.7874G>A (p.Arg2625Gln) rs8131693 0.05976
NM_006031.6(PCNT):c.5634C>T (p.Asp1878=) rs61735811 0.05866
NM_006031.6(PCNT):c.8707G>A (p.Ala2903Thr) rs35147998 0.05666
NM_006031.6(PCNT):c.-16G>T rs138595914 0.05397
NM_006031.6(PCNT):c.711T>G (p.His237Gln) rs34500739 0.05250
NM_006031.6(PCNT):c.5858G>A (p.Arg1953His) rs34268261 0.05068
NM_006031.6(PCNT):c.7536G>A (p.Pro2512=) rs61735818 0.04944
NM_006031.6(PCNT):c.7074T>C (p.Pro2358=) rs61735815 0.04931
NM_006031.6(PCNT):c.8258G>A (p.Arg2753His) rs743346 0.04797
NM_006031.6(PCNT):c.54+6C>T rs80017051 0.04471
NM_006031.6(PCNT):c.7485C>T (p.Ile2495=) rs61735817 0.04157
NM_006031.6(PCNT):c.7130C>T (p.Pro2377Leu) rs61735814 0.04156
NM_006031.6(PCNT):c.520A>G (p.Ile174Val) rs61735822 0.03881
NM_006031.6(PCNT):c.498A>G (p.Pro166=) rs61735824 0.03505
NM_006031.6(PCNT):c.3580G>A (p.Ala1194Thr) rs35044802 0.03488
NM_006031.6(PCNT):c.6918T>C (p.Ala2306=) rs61738290 0.03466
NM_006031.6(PCNT):c.6571T>C (p.Ser2191Pro) rs34151633 0.03401
NM_006031.6(PCNT):c.3339T>C (p.Ser1113=) rs61735805 0.03060
NM_006031.6(PCNT):c.8988C>T (p.Ala2996=) rs61735826 0.02642
NM_006031.6(PCNT):c.9271A>G (p.Ser3091Gly) rs4818842 0.02495
NM_006031.6(PCNT):c.5879G>A (p.Arg1960Gln) rs34813667 0.02020
NM_006031.6(PCNT):c.7867C>T (p.Leu2623=) rs61735821 0.01957
NM_006031.6(PCNT):c.9014C>T (p.Thr3005Met) rs60078675 0.01889
NM_006031.6(PCNT):c.5742G>A (p.Ala1914=) rs61735810 0.01545
NM_006031.6(PCNT):c.6739C>T (p.His2247Tyr) rs61735812 0.01511
NM_006031.6(PCNT):c.7800G>A (p.Ala2600=) rs61735820 0.01494
NM_006031.6(PCNT):c.7652C>T (p.Ala2551Val) rs12481791 0.01490
NM_006031.6(PCNT):c.4962+10G>A rs114474454 0.01142
NM_006031.6(PCNT):c.9015G>A (p.Thr3005=) rs79359463 0.00973
NM_006031.6(PCNT):c.3615G>A (p.Ala1205=) rs61735806 0.00816
NM_006031.6(PCNT):c.6616A>G (p.Thr2206Ala) rs9981448 0.00789
NM_006031.6(PCNT):c.7159G>A (p.Val2387Met) rs75024419 0.00771
NM_006031.6(PCNT):c.7353G>A (p.Gly2451=) rs61735816 0.00767
NM_006031.6(PCNT):c.7914-4G>A rs76287849 0.00764
NM_006031.6(PCNT):c.7404G>C (p.Gln2468His) rs77075366 0.00759
NM_006031.6(PCNT):c.4572G>A (p.Pro1524=) rs116431741 0.00746
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783 0.00731
NM_006031.6(PCNT):c.8065-19G>A rs78561636 0.00724
NM_006031.6(PCNT):c.4910C>T (p.Pro1637Leu) rs34849154 0.00717
NM_006031.6(PCNT):c.7914-5C>T rs114120845 0.00679
NM_006031.6(PCNT):c.2575G>A (p.Asp859Asn) rs115369710 0.00648
NM_006031.6(PCNT):c.7656C>T (p.Arg2552=) rs61735819 0.00644
NM_006031.6(PCNT):c.7398G>A (p.Glu2466=) rs114739559 0.00622
NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val) rs184420466 0.00604
NM_006031.6(PCNT):c.8924T>C (p.Leu2975Pro) rs35881595 0.00600
NM_006031.6(PCNT):c.8646G>C (p.Leu2882Phe) rs141771795 0.00596
NM_006031.6(PCNT):c.6986C>G (p.Pro2329Arg) rs35848602 0.00593
NM_006031.6(PCNT):c.8752-5A>C rs149444205 0.00573
NM_006031.6(PCNT):c.5954C>T (p.Ser1985Phe) rs140398533 0.00539
NM_006031.6(PCNT):c.6634C>T (p.Arg2212Trp) rs144471022 0.00516
NM_006031.6(PCNT):c.9099+12G>A rs140828051 0.00430
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu) rs139432601 0.00381
NM_006031.6(PCNT):c.9623+8C>T rs75758339 0.00365
NM_006031.6(PCNT):c.9720G>A (p.Pro3240=) rs141991283 0.00331
NM_006031.6(PCNT):c.6933C>T (p.Val2311=) rs148444313 0.00298
NM_006031.6(PCNT):c.6579G>A (p.Pro2193=) rs150756913 0.00292
NM_006031.6(PCNT):c.9274-3C>T rs200348425 0.00242
NM_006031.6(PCNT):c.5710G>A (p.Ala1904Thr) rs200426591 0.00204
NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg) rs143796569 0.00149
NM_006031.6(PCNT):c.6957T>G (p.Phe2319Leu) rs61735813 0.00111
NM_006031.6(PCNT):c.5815C>T (p.Arg1939Trp) rs575313866 0.00092
NM_006031.6(PCNT):c.904G>A (p.Glu302Lys) rs186701249 0.00047
NM_006031.6(PCNT):c.6822G>A (p.Pro2274=) rs375741970 0.00009
NM_006031.6(PCNT):c.8895G>A (p.Ala2965=) rs572222540 0.00008
NM_006031.6(PCNT):c.9174G>A (p.Ala3058=) rs554275370 0.00002
NM_006031.5(PCNT):c.-100delG rs397802954
NM_006031.6(PCNT):c.1542C>A (p.Ser514=) rs2249057
NM_006031.6(PCNT):c.1542C>T (p.Ser514=) rs2249057
NM_006031.6(PCNT):c.467_505dup (p.His156_Gln168dup) rs587784306
NM_006031.6(PCNT):c.6150+11G>C rs10222116
NM_006031.6(PCNT):c.6922-5_6922-4insTCTGA rs59957960

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.