ClinVar Miner

List of variants in gene PRKG1 reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 189
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006258.4(PRKG1):c.1008T>C (p.Phe336=) rs56047641 0.05131
NM_006258.4(PRKG1):c.845A>G (p.Asn282Ser) rs34997494 0.03846
NM_006258.4(PRKG1):c.888T>C (p.Leu296=) rs113994747 0.02057
NM_006258.4(PRKG1):c.408G>A (p.Pro136=) rs55806342 0.01754
NM_006258.4(PRKG1):c.1080T>C (p.Tyr360=) rs141218982 0.00519
NM_006258.4(PRKG1):c.426C>T (p.Asp142=) rs55754654 0.00439
NM_006258.4(PRKG1):c.906A>C (p.Gly302=) rs145917628 0.00185
NM_006258.4(PRKG1):c.1299C>T (p.Ser433=) rs145035655 0.00127
NM_006258.4(PRKG1):c.1525C>T (p.His509Tyr) rs139646798 0.00109
NM_006258.4(PRKG1):c.1071A>G (p.Lys357=) rs75650199 0.00097
NM_006258.4(PRKG1):c.675C>T (p.Thr225=) rs142166726 0.00050
NM_006258.4(PRKG1):c.1466A>T (p.Tyr489Phe) rs149710600 0.00027
NM_006258.4(PRKG1):c.893C>T (p.Thr298Ile) rs140716870 0.00022
NM_006258.4(PRKG1):c.1290G>A (p.Gly430=) rs139494883 0.00021
NM_006258.4(PRKG1):c.810G>C (p.Gly270=) rs151055252 0.00016
NM_006258.4(PRKG1):c.1017G>A (p.Leu339=) rs187636159 0.00012
NM_006258.4(PRKG1):c.790A>G (p.Ile264Val) rs56082459 0.00012
NM_006258.4(PRKG1):c.1026G>A (p.Gly342=) rs374834674 0.00011
NM_006258.4(PRKG1):c.1662C>T (p.Ala554=) rs374202731 0.00011
NM_006258.4(PRKG1):c.2043A>T (p.Gly681=) rs146785168 0.00011
NM_006258.4(PRKG1):c.321T>C (p.Asp107=) rs201033058 0.00011
NM_006258.4(PRKG1):c.839C>T (p.Thr280Met) rs376134488 0.00011
NM_006258.4(PRKG1):c.15G>T (p.Arg5=) rs148780812 0.00010
NM_006258.4(PRKG1):c.1710-4G>A rs374445349 0.00008
NM_006258.4(PRKG1):c.1092G>A (p.Ala364=) rs373675576 0.00007
NM_006258.4(PRKG1):c.63G>A (p.Arg21=) rs143805509 0.00007
NM_006258.4(PRKG1):c.980C>A (p.Thr327Asn) rs138485549 0.00007
NM_006258.4(PRKG1):c.1928G>A (p.Arg643Lys) rs770812712 0.00006
NM_006258.4(PRKG1):c.2014G>A (p.Asp672Asn) rs142375882 0.00006
NM_006258.4(PRKG1):c.30G>A (p.Ala10=) rs768867882 0.00006
NM_006258.4(PRKG1):c.375G>A (p.Ser125=) rs111805858 0.00006
NM_006258.4(PRKG1):c.1867A>T (p.Asn623Tyr) rs201720423 0.00005
NM_006258.4(PRKG1):c.1228C>T (p.Arg410Cys) rs377519440 0.00004
NM_006258.4(PRKG1):c.123G>A (p.Lys41=) rs146681875 0.00004
NM_006258.4(PRKG1):c.132C>T (p.Asn44=) rs139227021 0.00004
NM_006258.4(PRKG1):c.1423A>G (p.Thr475Ala) rs140630065 0.00004
NM_006258.4(PRKG1):c.1519C>T (p.Leu507=) rs1050128985 0.00004
NM_006258.4(PRKG1):c.1611A>C (p.Pro537=) rs370755321 0.00004
NM_006258.4(PRKG1):c.1988A>G (p.Asn663Ser) rs766915028 0.00004
NM_006258.4(PRKG1):c.2049T>C (p.Asp683=) rs771700923 0.00004
NM_006258.4(PRKG1):c.421A>C (p.Lys141Gln) rs761759814 0.00004
NM_006258.4(PRKG1):c.570T>C (p.Cys190=) rs1277664864 0.00004
NM_006258.4(PRKG1):c.867G>A (p.Pro289=) rs150189667 0.00004
NM_006258.4(PRKG1):c.1229G>A (p.Arg410His) rs201147665 0.00003
NM_006258.4(PRKG1):c.1832+5G>A rs752357283 0.00003
NM_006258.4(PRKG1):c.1845A>G (p.Ser615=) rs1177160264 0.00003
NM_006258.4(PRKG1):c.951A>T (p.Thr317=) rs770604607 0.00003
NM_006258.4(PRKG1):c.1315C>T (p.Leu439=) rs142314590 0.00002
NM_006258.4(PRKG1):c.1749C>T (p.Asn583=) rs765040798 0.00002
NM_006258.4(PRKG1):c.2013C>T (p.Asn671=) rs373962932 0.00002
NM_006258.4(PRKG1):c.299C>G (p.Pro100Arg) rs763629518 0.00002
NM_006258.4(PRKG1):c.470T>C (p.Val157Ala) rs774143507 0.00002
NM_006258.4(PRKG1):c.478+4C>T rs753168304 0.00002
NM_006258.4(PRKG1):c.582G>A (p.Ala194=) rs370511935 0.00002
NM_006258.4(PRKG1):c.622G>A (p.Asp208Asn) rs760798881 0.00002
NM_006258.4(PRKG1):c.735C>G (p.Leu245=) rs761346689 0.00002
NM_006258.4(PRKG1):c.869G>C (p.Ser290Thr) rs756427024 0.00002
NM_006258.4(PRKG1):c.939A>G (p.Glu313=) rs201105457 0.00002
NM_006258.4(PRKG1):c.1106A>G (p.Asn369Ser) rs775372704 0.00001
NM_006258.4(PRKG1):c.1173+4G>A rs886039153 0.00001
NM_006258.4(PRKG1):c.1233C>T (p.His411=) rs760609014 0.00001
NM_006258.4(PRKG1):c.1300G>A (p.Asp434Asn) rs371044753 0.00001
NM_006258.4(PRKG1):c.1391T>C (p.Ile464Thr) rs1008442154 0.00001
NM_006258.4(PRKG1):c.1428C>T (p.Thr476=) rs374020671 0.00001
NM_006258.4(PRKG1):c.1491C>T (p.Tyr497=) rs750494870 0.00001
NM_006258.4(PRKG1):c.1536T>C (p.Tyr512=) rs149159224 0.00001
NM_006258.4(PRKG1):c.156G>A (p.Val52=) rs755664654 0.00001
NM_006258.4(PRKG1):c.1811A>C (p.Asn604Thr) rs886039042 0.00001
NM_006258.4(PRKG1):c.1879G>T (p.Asp627Tyr) rs1428272946 0.00001
NM_006258.4(PRKG1):c.2016T>C (p.Asp672=) rs781473103 0.00001
NM_006258.4(PRKG1):c.2053G>C (p.Asp685His) rs1398800687 0.00001
NM_006258.4(PRKG1):c.27C>T (p.Tyr9=) rs777472224 0.00001
NM_006258.4(PRKG1):c.314C>T (p.Ser105Phe) rs1368918637 0.00001
NM_006258.4(PRKG1):c.36G>A (p.Gln12=) rs1360836398 0.00001
NM_006258.4(PRKG1):c.395A>G (p.Asp132Gly) rs140871298 0.00001
NM_006258.4(PRKG1):c.450C>T (p.Asp150=) rs368286950 0.00001
NM_006258.4(PRKG1):c.486G>A (p.Lys162=) rs773961955 0.00001
NM_006258.4(PRKG1):c.585C>T (p.Thr195=) rs139104275 0.00001
NM_006258.4(PRKG1):c.619A>G (p.Ile207Val) rs1235083176 0.00001
NM_006258.4(PRKG1):c.676G>A (p.Glu226Lys) rs751351827 0.00001
NM_006258.4(PRKG1):c.799G>A (p.Gly267Ser) rs747670757 0.00001
NM_006258.4(PRKG1):c.957C>T (p.Asn319=) rs949262667 0.00001
NM_001098512.3(PRKG1):c.209C>G (p.Thr70Arg)
NM_006258.4(PRKG1):c.-5G>A
NM_006258.4(PRKG1):c.1003T>C (p.Ser335Pro)
NM_006258.4(PRKG1):c.1042A>C (p.Asn348His)
NM_006258.4(PRKG1):c.1066G>A (p.Ala356Thr)
NM_006258.4(PRKG1):c.1067C>T (p.Ala356Val)
NM_006258.4(PRKG1):c.1083A>C (p.Glu361Asp)
NM_006258.4(PRKG1):c.1085C>T (p.Ala362Val)
NM_006258.4(PRKG1):c.1086T>C (p.Ala362=)
NM_006258.4(PRKG1):c.1091C>T (p.Ala364Val)
NM_006258.4(PRKG1):c.10T>C (p.Leu4=)
NM_006258.4(PRKG1):c.112C>T (p.Leu38=)
NM_006258.4(PRKG1):c.1148T>C (p.Val383Ala)
NM_006258.4(PRKG1):c.1158C>T (p.Phe386=)
NM_006258.4(PRKG1):c.1162C>A (p.Arg388=)
NM_006258.4(PRKG1):c.117C>T (p.Ile39=)
NM_006258.4(PRKG1):c.1188T>G (p.Ser396Arg)
NM_006258.4(PRKG1):c.1203G>A (p.Thr401=)
NM_006258.4(PRKG1):c.1218T>C (p.Ile406=) rs1211976786
NM_006258.4(PRKG1):c.1226A>G (p.Lys409Arg)
NM_006258.4(PRKG1):c.1239G>A (p.Val413=)
NM_006258.4(PRKG1):c.1258C>T (p.His420Tyr)
NM_006258.4(PRKG1):c.127C>G (p.Gln43Glu)
NM_006258.4(PRKG1):c.1280T>A (p.Ile427Asn)
NM_006258.4(PRKG1):c.1304T>C (p.Phe435Ser)
NM_006258.4(PRKG1):c.1306A>C (p.Ile436Leu)
NM_006258.4(PRKG1):c.1325C>T (p.Thr442Ile)
NM_006258.4(PRKG1):c.1332G>A (p.Lys444=) rs2132434278
NM_006258.4(PRKG1):c.133G>A (p.Glu45Lys)
NM_006258.4(PRKG1):c.1405G>A (p.Gly469Ser)
NM_006258.4(PRKG1):c.1450G>C (p.Val484Leu)
NM_006258.4(PRKG1):c.147C>T (p.Tyr49=) rs1843902455
NM_006258.4(PRKG1):c.1483A>G (p.Ile495Val)
NM_006258.4(PRKG1):c.1485C>A (p.Ile495=)
NM_006258.4(PRKG1):c.149G>A (p.Arg50His)
NM_006258.4(PRKG1):c.1518C>A (p.Ile506=) rs1462590792
NM_006258.4(PRKG1):c.1528C>G (p.Arg510Gly) rs1564544146
NM_006258.4(PRKG1):c.1529G>A (p.Arg510Gln)
NM_006258.4(PRKG1):c.1532G>T (p.Gly511Val)
NM_006258.4(PRKG1):c.153G>C (p.Ser51=) rs1400601775
NM_006258.4(PRKG1):c.1594A>T (p.Thr532Ser)
NM_006258.4(PRKG1):c.162A>G (p.Arg54=) rs2132804433
NM_006258.4(PRKG1):c.165A>G (p.Pro55=)
NM_006258.4(PRKG1):c.1661C>T (p.Ala554Val) rs748543896
NM_006258.4(PRKG1):c.1675C>T (p.Leu559=)
NM_006258.4(PRKG1):c.1726C>T (p.Pro576Ser) rs1482011029
NM_006258.4(PRKG1):c.1765A>T (p.Ile589Phe)
NM_006258.4(PRKG1):c.1771A>G (p.Met591Val)
NM_006258.4(PRKG1):c.1788G>T (p.Lys596Asn)
NM_006258.4(PRKG1):c.1792A>G (p.Ile598Val)
NM_006258.4(PRKG1):c.1801A>T (p.Asn601Tyr)
NM_006258.4(PRKG1):c.180G>A (p.Ala60=) rs756866692
NM_006258.4(PRKG1):c.1855G>T (p.Gly619Trp)
NM_006258.4(PRKG1):c.1891C>T (p.His631Tyr) rs1554824244
NM_006258.4(PRKG1):c.1896A>T (p.Lys632Asn)
NM_006258.4(PRKG1):c.1914C>T (p.Asn638=)
NM_006258.4(PRKG1):c.1934G>T (p.Gly645Val) rs2132462447
NM_006258.4(PRKG1):c.1939T>C (p.Leu647=)
NM_006258.4(PRKG1):c.1961G>C (p.Ser654Thr)
NM_006258.4(PRKG1):c.1968A>G (p.Ala656=) rs564599393
NM_006258.4(PRKG1):c.197G>T (p.Ser66Ile) rs530013905
NM_006258.4(PRKG1):c.1982C>A (p.Thr661Lys)
NM_006258.4(PRKG1):c.2001C>T (p.Phe667=)
NM_006258.4(PRKG1):c.200C>T (p.Thr67Ile)
NM_006258.4(PRKG1):c.2026C>T (p.Pro676Ser)
NM_006258.4(PRKG1):c.207G>A (p.Gln69=)
NM_006258.4(PRKG1):c.226C>A (p.Arg76=) rs919667557
NM_006258.4(PRKG1):c.240C>T (p.Ser80=)
NM_006258.4(PRKG1):c.243C>T (p.Ala81=)
NM_006258.4(PRKG1):c.258C>T (p.Phe86=)
NM_006258.4(PRKG1):c.271C>T (p.Leu91Phe)
NM_006258.4(PRKG1):c.307C>T (p.Pro103Ser)
NM_006258.4(PRKG1):c.319G>A (p.Asp107Asn) rs751916382
NM_006258.4(PRKG1):c.319G>C (p.Asp107His) rs751916382
NM_006258.4(PRKG1):c.337A>G (p.Ile113Val) rs1554841032
NM_006258.4(PRKG1):c.369G>C (p.Glu123Asp)
NM_006258.4(PRKG1):c.375G>T (p.Ser125=) rs111805858
NM_006258.4(PRKG1):c.38A>G (p.Glu13Gly)
NM_006258.4(PRKG1):c.397T>G (p.Cys133Gly)
NM_006258.4(PRKG1):c.39G>A (p.Glu13=) rs878854901
NM_006258.4(PRKG1):c.440A>G (p.Lys147Arg)
NM_006258.4(PRKG1):c.456G>T (p.Gly152=)
NM_006258.4(PRKG1):c.460C>T (p.Leu154=) rs1487309461
NM_006258.4(PRKG1):c.505G>A (p.Gly169Ser)
NM_006258.4(PRKG1):c.522C>T (p.Thr174=) rs369697050
NM_006258.4(PRKG1):c.546G>A (p.Gly182=) rs73336216
NM_006258.4(PRKG1):c.567C>T (p.Asn189=)
NM_006258.4(PRKG1):c.575G>A (p.Arg192Gln) rs397515330
NM_006258.4(PRKG1):c.610C>T (p.Leu204Phe) rs1839257214
NM_006258.4(PRKG1):c.643A>G (p.Ile215Val)
NM_006258.4(PRKG1):c.664A>G (p.Ile222Val)
NM_006258.4(PRKG1):c.678G>A (p.Glu226=)
NM_006258.4(PRKG1):c.693A>G (p.Leu231=) rs752625931
NM_006258.4(PRKG1):c.699C>T (p.Ser233=)
NM_006258.4(PRKG1):c.720T>A (p.Leu240=)
NM_006258.4(PRKG1):c.766C>T (p.His256Tyr)
NM_006258.4(PRKG1):c.774A>G (p.Glu258=)
NM_006258.4(PRKG1):c.784T>C (p.Tyr262His)
NM_006258.4(PRKG1):c.865C>G (p.Pro289Ala)
NM_006258.4(PRKG1):c.866C>T (p.Pro289Leu) rs549568221
NM_006258.4(PRKG1):c.881T>G (p.Val294Gly)
NM_006258.4(PRKG1):c.882C>A (p.Val294=) rs1554798558
NM_006258.4(PRKG1):c.910T>A (p.Trp304Arg)
NM_006258.4(PRKG1):c.957C>A (p.Asn319Lys)
NM_006258.4(PRKG1):c.958G>A (p.Val320Ile) rs768491086
NM_006258.4(PRKG1):c.969A>G (p.Ala323=)
NM_006258.4(PRKG1):c.974C>A (p.Ala325Asp)

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.