ClinVar Miner

List of variants in gene PC studied for not specified

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Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_001040716.2(PC):c.2224-9T>G rs45560936 0.03311
NM_001040716.2(PC):c.2580C>T (p.Asp860=) rs45584036 0.01323
NM_001040716.2(PC):c.2249C>T (p.Thr750Met) rs145400751 0.00662
NM_001040716.2(PC):c.2682T>C (p.Tyr894=) rs56705397 0.00598
NM_001040716.2(PC):c.85G>A (p.Val29Ile) rs45471099 0.00394
NM_001040716.2(PC):c.321+5G>A rs200766019 0.00264
NM_001040716.2(PC):c.1608G>A (p.Pro536=) rs139074169 0.00210
NM_001040716.2(PC):c.1344G>A (p.Ala448=) rs148281644 0.00158
NM_001040716.2(PC):c.2223+19C>T rs45457699 0.00153
NM_001040716.2(PC):c.1604-17G>A rs79317761 0.00103
NM_001040716.2(PC):c.1513+13del rs755170894 0.00099
NM_001040716.2(PC):c.3342G>A (p.Ala1114=) rs141978731 0.00088
NM_001040716.2(PC):c.904-17C>T rs199565222 0.00083
NM_001040716.2(PC):c.2550C>T (p.Cys850=) rs61749179 0.00080
NM_001040716.2(PC):c.1-35650G>A rs78739472 0.00061
NM_001040716.2(PC):c.496G>A (p.Val166Ile) rs147697454 0.00060
NM_001040716.2(PC):c.216G>A (p.Thr72=) rs117711892 0.00058
NM_001040716.2(PC):c.486G>A (p.Ala162=) rs142416378 0.00041
NM_001040716.2(PC):c.3258C>G (p.Ser1086=) rs138238125 0.00039
NM_001040716.2(PC):c.1551C>T (p.Pro517=) rs140746469 0.00031
NM_001040716.2(PC):c.2577G>A (p.Ser859=) rs199879375 0.00029
NM_001040716.2(PC):c.*15G>A rs45501894 0.00027
NM_001040716.2(PC):c.89G>A (p.Arg30Gln) rs199616332 0.00019
NM_001040716.2(PC):c.571A>G (p.Ile191Val) rs141543771 0.00014
NM_001040716.2(PC):c.2304G>C (p.Leu768=) rs61731787 0.00011
NM_001040716.2(PC):c.50G>A (p.Arg17His) rs375282341 0.00007
NM_001040716.2(PC):c.1368+11G>A rs371731636 0.00005
NM_001040716.2(PC):c.1767G>T (p.Lys589Asn) rs143725101 0.00004
NM_001040716.2(PC):c.904-16G>A rs189690730 0.00004
NM_001040716.2(PC):c.1519G>A (p.Val507Ile) rs555210692 0.00003
NM_001040716.2(PC):c.3336C>T (p.Ile1112=) rs776196411 0.00003
NM_001040716.2(PC):c.3033T>C (p.Ala1011=) rs139740019 0.00002
NM_001040716.2(PC):c.1173C>T (p.Thr391=) rs202135326 0.00001
NM_001040716.2(PC):c.14G>A (p.Arg5Gln) rs753072659 0.00001
NM_001040716.2(PC):c.159C>T (p.Phe53=) rs749641310 0.00001
NM_001040716.2(PC):c.2195G>A (p.Arg732Gln) rs773872994 0.00001
NM_001040716.2(PC):c.2224-18C>A rs768718604 0.00001
NM_001040716.2(PC):c.2657A>G (p.Lys886Arg) rs796052027 0.00001
NM_001040716.2(PC):c.2706C>T (p.Gly902=) rs73489729 0.00001
NM_001040716.2(PC):c.2880C>T (p.Pro960=) rs549991937 0.00001
NM_001040716.2(PC):c.3288+20C>T rs750712278 0.00001
NM_001040716.2(PC):c.927C>T (p.Thr309=) rs373717650 0.00001
NM_001040716.2(PC):c.-228+9C>T rs1555053361
NM_001040716.2(PC):c.1-37A>C rs781186745
NM_001040716.2(PC):c.1023-14C>A rs111858832
NM_001040716.2(PC):c.1140C>A (p.Thr380=) rs369657359
NM_001040716.2(PC):c.1513+9C>A rs45580638
NM_001040716.2(PC):c.1603+4G>T rs923731755
NM_001040716.2(PC):c.1717G>A (p.Ala573Thr) rs796052029
NM_001040716.2(PC):c.2118C>T (p.Tyr706=) rs771659705
NM_001040716.2(PC):c.3289-10G>C rs529411023
NM_001040716.2(PC):c.3520A>C (p.Ile1174Leu) rs879255351
NM_001040716.2(PC):c.634-4G>A rs368096991
NM_001040716.2(PC):c.736G>A (p.Glu246Lys)
NM_001040716.2(PC):c.796T>G (p.Ser266Ala) rs113994142
NM_001040716.2(PC):c.840C>T (p.Ala280=) rs376393322
NM_001040716.2(PC):c.96G>A (p.Leu32=) rs1057520946

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