ClinVar Miner

List of variants in gene PRKG1 reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.790A>G (p.Ile264Val) rs56082459 0.00012
NM_006258.4(PRKG1):c.2043A>T (p.Gly681=) rs146785168 0.00011
NM_006258.4(PRKG1):c.839C>T (p.Thr280Met) rs376134488 0.00011
NM_006258.4(PRKG1):c.980C>A (p.Thr327Asn) rs138485549 0.00007
NM_006258.4(PRKG1):c.2014G>A (p.Asp672Asn) rs142375882 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.1423A>G (p.Thr475Ala) rs140630065 0.00004
NM_006258.4(PRKG1):c.1988A>G (p.Asn663Ser) rs766915028 0.00004
NM_006258.4(PRKG1):c.1102G>A (p.Ala368Thr) rs755634503 0.00003
NM_006258.4(PRKG1):c.1229G>A (p.Arg410His) rs201147665 0.00003
NM_006258.4(PRKG1):c.2042G>C (p.Gly681Ala) rs750949508 0.00002
NM_006258.4(PRKG1):c.299C>G (p.Pro100Arg) rs763629518 0.00002
NM_006258.4(PRKG1):c.586G>A (p.Val196Ile) rs777385159 0.00002
NM_006258.4(PRKG1):c.622G>A (p.Asp208Asn) rs760798881 0.00002
NM_006258.4(PRKG1):c.854G>A (p.Arg285His) rs765812630 0.00002
NM_006258.4(PRKG1):c.1106A>G (p.Asn369Ser) rs775372704 0.00001
NM_006258.4(PRKG1):c.170C>T (p.Thr57Ile) rs758888287 0.00001
NM_006258.4(PRKG1):c.1750A>G (p.Ile584Val) rs1842176037 0.00001
NM_006258.4(PRKG1):c.1936A>G (p.Thr646Ala) rs1057524623 0.00001
NM_006258.4(PRKG1):c.2052A>G (p.Ile684Met) rs374752370 0.00001
NM_006258.4(PRKG1):c.395A>G (p.Asp132Gly) rs140871298 0.00001
NM_006258.4(PRKG1):c.449A>C (p.Asp150Ala) rs775427696 0.00001
NM_006258.4(PRKG1):c.473T>C (p.Met158Thr) rs767973721 0.00001
NM_006258.4(PRKG1):c.619A>G (p.Ile207Val) rs1235083176 0.00001
NM_006258.4(PRKG1):c.1000G>A (p.Asp334Asn) rs2132635326
NM_006258.4(PRKG1):c.1067C>T (p.Ala356Val)
NM_006258.4(PRKG1):c.1144G>A (p.Gly382Arg) rs1554821529
NM_006258.4(PRKG1):c.1190A>G (p.Glu397Gly)
NM_006258.4(PRKG1):c.1528C>G (p.Arg510Gly) rs1564544146
NM_006258.4(PRKG1):c.1559T>G (p.Phe520Cys)
NM_006258.4(PRKG1):c.1742C>T (p.Thr581Ile)
NM_006258.4(PRKG1):c.1858A>T (p.Asn620Tyr) rs2132460377
NM_006258.4(PRKG1):c.1993G>T (p.Asp665Tyr) rs2132469736
NM_006258.4(PRKG1):c.2005G>A (p.Glu669Lys) rs2132469753
NM_006258.4(PRKG1):c.211G>A (p.Glu71Lys) rs2132804640
NM_006258.4(PRKG1):c.226C>T (p.Arg76Trp) rs919667557
NM_006258.4(PRKG1):c.319G>C (p.Asp107His) rs751916382
NM_006258.4(PRKG1):c.389T>C (p.Ile130Thr) rs771121101
NM_006258.4(PRKG1):c.542T>C (p.Phe181Ser) rs141293448
NM_006258.4(PRKG1):c.553G>A (p.Ala185Thr) rs1554812434
NM_006258.4(PRKG1):c.568T>C (p.Cys190Arg) rs1554812441
NM_006258.4(PRKG1):c.5G>A (p.Gly2Asp) rs1843898285
NM_006258.4(PRKG1):c.610C>T (p.Leu204Phe) rs1839257214
NM_006258.4(PRKG1):c.620T>C (p.Ile207Thr)
NM_006258.4(PRKG1):c.683T>C (p.Met228Thr) rs1468952215
NM_006258.4(PRKG1):c.80A>T (p.Glu27Val)
NM_006258.4(PRKG1):c.840+5G>T rs1064796485
NM_006258.4(PRKG1):c.910T>A (p.Trp304Arg)
NM_006258.4(PRKG1):c.958G>C (p.Val320Leu)

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.