List of variants in gene PCNT reported as benign for bone disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 106

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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.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_006031.6(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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