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
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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 0.87375
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 0.67221
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 0.22440
NM_006031.6(PCNT):c.6715T>C (p.Trp2239Arg) rs35346764 0.18919
NM_006031.6(PCNT):c.7913+9G>C rs1023160 0.18804
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.6927A>G (p.Lys2309=) rs2839246 0.18636
NM_006031.6(PCNT):c.6290T>C (p.Leu2097Pro) rs2839245 0.18635
NM_006031.6(PCNT):c.6384A>G (p.Thr2128=) rs60444527 0.18604
NM_006031.6(PCNT):c.7645G>A (p.Ala2549Thr) rs2839256 0.18603
NM_006031.6(PCNT):c.6374A>C (p.His2125Pro) rs35978208 0.18595
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.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 0.12572
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.8258G>A (p.Arg2753His) rs743346 0.04982
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.54+6C>T rs80017051 0.04471
NM_006031.6(PCNT):c.7485C>T (p.Ile2495=) rs61735817 0.04297
NM_006031.6(PCNT):c.7130C>T (p.Pro2377Leu) rs61735814 0.04295
NM_006031.6(PCNT):c.520A>G (p.Ile174Val) rs61735822 0.03881
NM_006031.6(PCNT):c.6918T>C (p.Ala2306=) rs61738290 0.03522
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.6571T>C (p.Ser2191Pro) rs34151633 0.03401
NM_006031.6(PCNT):c.3339T>C (p.Ser1113=) rs61735805 0.03082
NM_006031.6(PCNT):c.8988C>T (p.Ala2996=) rs61735826 0.02642
NM_006031.6(PCNT):c.9271A>G (p.Ser3091Gly) rs4818842 0.02525
NM_006031.6(PCNT):c.5879G>A (p.Arg1960Gln) rs34813667 0.02167
NM_006031.6(PCNT):c.7867C>T (p.Leu2623=) rs61735821 0.02105
NM_006031.6(PCNT):c.9014C>T (p.Thr3005Met) rs60078675 0.02025
NM_006031.6(PCNT):c.6739C>T (p.His2247Tyr) rs61735812 0.01575
NM_006031.6(PCNT):c.7652C>T (p.Ala2551Val) rs12481791 0.01548
NM_006031.6(PCNT):c.5742G>A (p.Ala1914=) rs61735810 0.01545
NM_006031.6(PCNT):c.7800G>A (p.Ala2600=) rs61735820 0.01494
NM_006031.6(PCNT):c.4962+10G>A rs114474454 0.01225
NM_006031.6(PCNT):c.9015G>A (p.Thr3005=) rs79359463 0.00973
NM_006031.6(PCNT):c.6616A>G (p.Thr2206Ala) rs9981448 0.00833
NM_006031.6(PCNT):c.3615G>A (p.Ala1205=) rs61735806 0.00816
NM_006031.6(PCNT):c.4572G>A (p.Pro1524=) rs116431741 0.00812
NM_006031.6(PCNT):c.4910C>T (p.Pro1637Leu) rs34849154 0.00771
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.8065-19G>A rs78561636 0.00750
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783 0.00733
NM_006031.6(PCNT):c.2575G>A (p.Asp859Asn) rs115369710 0.00703
NM_006031.6(PCNT):c.7398G>A (p.Glu2466=) rs114739559 0.00679
NM_006031.6(PCNT):c.7914-5C>T rs114120845 0.00679
NM_006031.6(PCNT):c.8924T>C (p.Leu2975Pro) rs35881595 0.00647
NM_006031.6(PCNT):c.7656C>T (p.Arg2552=) rs61735819 0.00644
NM_006031.6(PCNT):c.6986C>G (p.Pro2329Arg) rs35848602 0.00640
NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val) rs184420466 0.00604
NM_006031.6(PCNT):c.8646G>C (p.Leu2882Phe) rs141771795 0.00596
NM_006031.6(PCNT):c.5954C>T (p.Ser1985Phe) rs140398533 0.00585
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.9623+8C>T rs75758339 0.00388
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu) rs139432601 0.00379
NM_006031.6(PCNT):c.9720G>A (p.Pro3240=) rs141991283 0.00331
NM_006031.6(PCNT):c.6933C>T (p.Val2311=) rs148444313 0.00289
NM_006031.6(PCNT):c.9274-3C>T rs200348425 0.00242
NM_006031.6(PCNT):c.5710G>A (p.Ala1904Thr) rs200426591 0.00188
NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg) rs143796569 0.00149
NM_006031.6(PCNT):c.6957T>G (p.Phe2319Leu) rs61735813 0.00115
NM_006031.6(PCNT):c.5815C>T (p.Arg1939Trp) rs575313866 0.00060
NM_006031.6(PCNT):c.6579G>A (p.Pro2193=) rs150756913 0.00051
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

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