ClinVar Miner

List of variants in gene PCNT reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 144
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HGVS dbSNP gnomAD frequency
NM_006031.6(PCNT):c.6125G>A (p.Arg2042His) rs149264703 0.00151
NM_006031.6(PCNT):c.2833C>T (p.Arg945Cys) rs147358856 0.00043
NM_006031.6(PCNT):c.3581C>T (p.Ala1194Val) rs138254119 0.00038
NM_006031.6(PCNT):c.8399G>A (p.Arg2800Gln) rs146792192 0.00036
NM_006031.6(PCNT):c.4222C>T (p.Arg1408Trp) rs202161810 0.00029
NM_006031.6(PCNT):c.5554A>G (p.Met1852Val) rs142080697 0.00023
NM_006031.6(PCNT):c.7345T>A (p.Trp2449Arg) rs199778396 0.00022
NM_006031.6(PCNT):c.2358A>G (p.Ile786Met) rs777841149 0.00021
NM_006031.6(PCNT):c.6800C>T (p.Ser2267Leu) rs548287016 0.00016
NM_006031.6(PCNT):c.7058C>G (p.Pro2353Arg) rs139978398 0.00016
NM_006031.6(PCNT):c.934C>T (p.Arg312Trp) rs572076735 0.00015
NM_006031.6(PCNT):c.2458C>T (p.Arg820Cys) rs369586175 0.00014
NM_006031.6(PCNT):c.3730A>G (p.Met1244Val) rs372323744 0.00010
NM_006031.6(PCNT):c.6904G>A (p.Val2302Met) rs374601017 0.00008
NM_006031.6(PCNT):c.1876G>A (p.Val626Ile) rs201507947 0.00007
NM_006031.6(PCNT):c.505C>T (p.Arg169Cys) rs748260212 0.00007
NM_006031.6(PCNT):c.7298C>T (p.Ser2433Leu) rs769852846 0.00005
NM_006031.6(PCNT):c.3611C>T (p.Pro1204Leu) rs749542536 0.00004
NM_006031.6(PCNT):c.7939G>A (p.Glu2647Lys) rs886267351 0.00004
NM_006031.6(PCNT):c.6458A>G (p.Asn2153Ser) rs758705082 0.00003
NM_006031.6(PCNT):c.7282G>A (p.Glu2428Lys) rs778163048 0.00003
NM_006031.6(PCNT):c.4172G>A (p.Ser1391Asn) rs764095531 0.00002
NM_006031.6(PCNT):c.1220A>T (p.Asn407Ile) rs745322520 0.00001
NM_006031.6(PCNT):c.2728C>T (p.Gln910Ter) rs869312917 0.00001
NM_006031.6(PCNT):c.3594_3598dup (p.Leu1200fs) rs869312929 0.00001
NM_006031.6(PCNT):c.5975C>T (p.Pro1992Leu) rs758977418 0.00001
NM_006031.6(PCNT):c.9694C>T (p.Arg3232Cys) rs537151957 0.00001
NM_006031.6(PCNT):c.1034C>T (p.Thr345Ile)
NM_006031.6(PCNT):c.1118T>C (p.Met373Thr)
NM_006031.6(PCNT):c.1171T>G (p.Leu391Val)
NM_006031.6(PCNT):c.1201G>T (p.Ala401Ser)
NM_006031.6(PCNT):c.1330G>C (p.Glu444Gln)
NM_006031.6(PCNT):c.1507C>T (p.Gln503Ter) rs1555954069
NM_006031.6(PCNT):c.1585G>C (p.Asp529His)
NM_006031.6(PCNT):c.1729C>A (p.His577Asn)
NM_006031.6(PCNT):c.1782G>T (p.Gln594His)
NM_006031.6(PCNT):c.1938G>C (p.Glu646Asp)
NM_006031.6(PCNT):c.1948G>A (p.Val650Met)
NM_006031.6(PCNT):c.1996C>T (p.Arg666Trp) rs774325418
NM_006031.6(PCNT):c.2056A>G (p.Thr686Ala)
NM_006031.6(PCNT):c.2062C>T (p.Leu688Phe)
NM_006031.6(PCNT):c.2266A>G (p.Lys756Glu)
NM_006031.6(PCNT):c.2494G>A (p.Asp832Asn)
NM_006031.6(PCNT):c.2516G>T (p.Cys839Phe) rs1189857776
NM_006031.6(PCNT):c.2528C>T (p.Pro843Leu)
NM_006031.6(PCNT):c.2581G>A (p.Ala861Thr)
NM_006031.6(PCNT):c.2606G>A (p.Ser869Asn)
NM_006031.6(PCNT):c.266A>G (p.Gln89Arg)
NM_006031.6(PCNT):c.2776G>A (p.Ala926Thr)
NM_006031.6(PCNT):c.2779T>A (p.Leu927Met)
NM_006031.6(PCNT):c.2881G>C (p.Glu961Gln)
NM_006031.6(PCNT):c.2885C>T (p.Thr962Ile)
NM_006031.6(PCNT):c.2900G>A (p.Ser967Asn)
NM_006031.6(PCNT):c.298G>A (p.Asp100Asn)
NM_006031.6(PCNT):c.3008A>C (p.Lys1003Thr)
NM_006031.6(PCNT):c.3167G>A (p.Gly1056Asp)
NM_006031.6(PCNT):c.3239C>T (p.Ala1080Val)
NM_006031.6(PCNT):c.3373G>A (p.Val1125Met)
NM_006031.6(PCNT):c.3427A>G (p.Met1143Val)
NM_006031.6(PCNT):c.350G>C (p.Cys117Ser)
NM_006031.6(PCNT):c.3559G>A (p.Val1187Met)
NM_006031.6(PCNT):c.3608C>T (p.Ala1203Val)
NM_006031.6(PCNT):c.3667T>A (p.Ser1223Thr)
NM_006031.6(PCNT):c.3740A>G (p.Glu1247Gly) rs779953366
NM_006031.6(PCNT):c.3755G>T (p.Cys1252Phe)
NM_006031.6(PCNT):c.3785G>A (p.Ser1262Asn)
NM_006031.6(PCNT):c.3799G>T (p.Val1267Leu)
NM_006031.6(PCNT):c.3813G>A (p.Met1271Ile)
NM_006031.6(PCNT):c.3961G>A (p.Ala1321Thr)
NM_006031.6(PCNT):c.397T>A (p.Phe133Ile)
NM_006031.6(PCNT):c.4079G>A (p.Arg1360His)
NM_006031.6(PCNT):c.4142C>A (p.Ala1381Glu)
NM_006031.6(PCNT):c.4250A>G (p.Glu1417Gly)
NM_006031.6(PCNT):c.4352G>A (p.Arg1451His)
NM_006031.6(PCNT):c.4370C>T (p.Ala1457Val)
NM_006031.6(PCNT):c.4448A>C (p.Glu1483Ala)
NM_006031.6(PCNT):c.4469A>T (p.His1490Leu)
NM_006031.6(PCNT):c.4585G>A (p.Val1529Ile)
NM_006031.6(PCNT):c.458C>A (p.Pro153Gln)
NM_006031.6(PCNT):c.4687G>C (p.Glu1563Gln) rs746297554
NM_006031.6(PCNT):c.4702G>T (p.Glu1568Ter) rs1217566598
NM_006031.6(PCNT):c.4925A>C (p.Glu1642Ala)
NM_006031.6(PCNT):c.5074G>A (p.Val1692Ile) rs113342730
NM_006031.6(PCNT):c.5158A>G (p.Thr1720Ala)
NM_006031.6(PCNT):c.5167A>G (p.Asn1723Asp)
NM_006031.6(PCNT):c.5174A>C (p.Gln1725Pro)
NM_006031.6(PCNT):c.533A>C (p.Gln178Pro) rs200285580
NM_006031.6(PCNT):c.5377G>A (p.Glu1793Lys)
NM_006031.6(PCNT):c.5479G>T (p.Ala1827Ser)
NM_006031.6(PCNT):c.5593G>A (p.Ala1865Thr)
NM_006031.6(PCNT):c.5668G>C (p.Glu1890Gln)
NM_006031.6(PCNT):c.5708G>A (p.Arg1903His) rs776232288
NM_006031.6(PCNT):c.5873A>T (p.His1958Leu)
NM_006031.6(PCNT):c.5920G>A (p.Ala1974Thr)
NM_006031.6(PCNT):c.6020C>T (p.Thr2007Met)
NM_006031.6(PCNT):c.6095C>T (p.Ser2032Leu)
NM_006031.6(PCNT):c.6445G>A (p.Ala2149Thr)
NM_006031.6(PCNT):c.6473G>A (p.Gly2158Asp)
NM_006031.6(PCNT):c.6578C>G (p.Pro2193Arg)
NM_006031.6(PCNT):c.6601C>T (p.Arg2201Cys)
NM_006031.6(PCNT):c.6707T>C (p.Leu2236Pro)
NM_006031.6(PCNT):c.6761G>T (p.Cys2254Phe)
NM_006031.6(PCNT):c.6779T>C (p.Leu2260Pro)
NM_006031.6(PCNT):c.6810G>T (p.Gln2270His)
NM_006031.6(PCNT):c.7078G>T (p.Ala2360Ser)
NM_006031.6(PCNT):c.7145T>C (p.Met2382Thr)
NM_006031.6(PCNT):c.7268C>G (p.Pro2423Arg)
NM_006031.6(PCNT):c.7298C>G (p.Ser2433Trp)
NM_006031.6(PCNT):c.7337G>T (p.Cys2446Phe)
NM_006031.6(PCNT):c.7432G>C (p.Gly2478Arg)
NM_006031.6(PCNT):c.7783G>A (p.Val2595Met)
NM_006031.6(PCNT):c.7802C>T (p.Ala2601Val)
NM_006031.6(PCNT):c.7949C>T (p.Ala2650Val)
NM_006031.6(PCNT):c.8004G>T (p.Gln2668His)
NM_006031.6(PCNT):c.8090A>T (p.Gln2697Leu)
NM_006031.6(PCNT):c.8093G>A (p.Arg2698His)
NM_006031.6(PCNT):c.8131G>C (p.Glu2711Gln)
NM_006031.6(PCNT):c.8231A>T (p.Gln2744Leu)
NM_006031.6(PCNT):c.8339T>G (p.Val2780Gly)
NM_006031.6(PCNT):c.8383A>G (p.Lys2795Glu)
NM_006031.6(PCNT):c.841C>T (p.Arg281Trp)
NM_006031.6(PCNT):c.8422C>A (p.Leu2808Ile)
NM_006031.6(PCNT):c.8603C>T (p.Pro2868Leu)
NM_006031.6(PCNT):c.8684C>T (p.Ala2895Val)
NM_006031.6(PCNT):c.8777G>C (p.Arg2926Pro)
NM_006031.6(PCNT):c.8851C>T (p.Arg2951Cys)
NM_006031.6(PCNT):c.8852G>A (p.Arg2951His)
NM_006031.6(PCNT):c.8872C>T (p.Arg2958Cys)
NM_006031.6(PCNT):c.8896G>A (p.Asp2966Asn)
NM_006031.6(PCNT):c.8905C>T (p.Arg2969Trp) rs201154205
NM_006031.6(PCNT):c.8939A>G (p.Gln2980Arg)
NM_006031.6(PCNT):c.9023A>G (p.Asn3008Ser)
NM_006031.6(PCNT):c.9214G>A (p.Ala3072Thr)
NM_006031.6(PCNT):c.9346C>T (p.Arg3116Trp)
NM_006031.6(PCNT):c.9388G>A (p.Val3130Ile)
NM_006031.6(PCNT):c.9590G>A (p.Arg3197His)
NM_006031.6(PCNT):c.9590G>T (p.Arg3197Leu)
NM_006031.6(PCNT):c.9598G>A (p.Val3200Ile)
NM_006031.6(PCNT):c.9624A>C (p.Arg3208Ser)
NM_006031.6(PCNT):c.9710C>T (p.Ala3237Val)
NM_006031.6(PCNT):c.9752C>T (p.Pro3251Leu)
NM_006031.6(PCNT):c.9757C>T (p.Arg3253Trp)
NM_006031.6(PCNT):c.9823C>T (p.Pro3275Ser)
NM_006031.6(PCNT):c.9998T>A (p.Met3333Lys)

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