ClinVar Miner

List of variants in gene PRKG1 reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 98
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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.1710-4G>A rs374445349 0.00008
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.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.421A>C (p.Lys141Gln) rs761759814 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.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.622G>A (p.Asp208Asn) rs760798881 0.00002
NM_006258.4(PRKG1):c.869G>C (p.Ser290Thr) rs756427024 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.1300G>A (p.Asp434Asn) rs371044753 0.00001
NM_006258.4(PRKG1):c.1391T>C (p.Ile464Thr) rs1008442154 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.2053G>C (p.Asp685His) rs1398800687 0.00001
NM_006258.4(PRKG1):c.314C>T (p.Ser105Phe) rs1368918637 0.00001
NM_006258.4(PRKG1):c.395A>G (p.Asp132Gly) rs140871298 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_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.1091C>T (p.Ala364Val)
NM_006258.4(PRKG1):c.1148T>C (p.Val383Ala)
NM_006258.4(PRKG1):c.1188T>G (p.Ser396Arg)
NM_006258.4(PRKG1):c.1226A>G (p.Lys409Arg)
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.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.1483A>G (p.Ile495Val)
NM_006258.4(PRKG1):c.149G>A (p.Arg50His)
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.1594A>T (p.Thr532Ser)
NM_006258.4(PRKG1):c.1661C>T (p.Ala554Val) rs748543896
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.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.1934G>T (p.Gly645Val) rs2132462447
NM_006258.4(PRKG1):c.1961G>C (p.Ser654Thr)
NM_006258.4(PRKG1):c.197G>T (p.Ser66Ile) rs530013905
NM_006258.4(PRKG1):c.1982C>A (p.Thr661Lys)
NM_006258.4(PRKG1):c.200C>T (p.Thr67Ile)
NM_006258.4(PRKG1):c.2026C>T (p.Pro676Ser)
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.38A>G (p.Glu13Gly)
NM_006258.4(PRKG1):c.397T>G (p.Cys133Gly)
NM_006258.4(PRKG1):c.440A>G (p.Lys147Arg)
NM_006258.4(PRKG1):c.505G>A (p.Gly169Ser)
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.766C>T (p.His256Tyr)
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.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.974C>A (p.Ala325Asp)

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