ClinVar Miner

List of variants in gene combination LOC114827827, NPPA reported as uncertain significance for atrial fibrillation

Included ClinVar conditions (51):
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Gene type:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_006172.4(NPPA):c.19A>G (p.Thr7Ala) rs138651597 0.00036
NM_006172.4(NPPA):c.376C>T (p.Arg126Trp) rs760273901 0.00017
NM_006172.4(NPPA):c.449G>A (p.Arg150Gln) rs202102042 0.00016
NM_006172.4(NPPA):c.197C>T (p.Pro66Leu) rs150794709 0.00012
NM_006172.4(NPPA):c.23C>T (p.Thr8Ile) rs142653342 0.00011
NM_006172.4(NPPA):c.279T>G (p.Asp93Glu) rs148193368 0.00007
NM_006172.4(NPPA):c.253G>A (p.Gly85Arg) rs749353276 0.00006
NM_006172.4(NPPA):c.338G>C (p.Ser113Thr) rs948758051 0.00005
NM_006172.4(NPPA):c.377G>A (p.Arg126Gln) rs1803268 0.00005
NM_006172.4(NPPA):c.319C>T (p.Arg107Ter) rs772104828 0.00004
NM_006172.4(NPPA):c.350C>T (p.Ala117Val) rs72639212 0.00004
NM_006172.4(NPPA):c.413T>C (p.Ile138Thr) rs762638785 0.00004
NM_006172.4(NPPA):c.134A>G (p.Asp45Gly) rs760988004 0.00003
NM_006172.4(NPPA):c.209C>T (p.Ala70Val) rs13305987 0.00002
NM_006172.4(NPPA):c.242C>G (p.Pro81Arg) rs747934586 0.00002
NM_006172.4(NPPA):c.49T>C (p.Phe17Leu) rs766292107 0.00002
NM_006172.4(NPPA):c.89A>G (p.Asn30Ser) rs747690078 0.00002
NM_006172.4(NPPA):c.103G>A (p.Ala35Thr) rs202145205 0.00001
NM_006172.4(NPPA):c.112A>G (p.Met38Val) rs764360980 0.00001
NM_006172.4(NPPA):c.113T>G (p.Met38Arg) rs763172985 0.00001
NM_006172.4(NPPA):c.123G>C (p.Lys41Asn) rs147962789 0.00001
NM_006172.4(NPPA):c.149A>T (p.Lys50Met) rs984830140 0.00001
NM_006172.4(NPPA):c.154C>T (p.Pro52Ser) rs1278041804 0.00001
NM_006172.4(NPPA):c.172G>A (p.Val58Met) rs768114654 0.00001
NM_006172.4(NPPA):c.176C>T (p.Pro59Leu) rs759999149 0.00001
NM_006172.4(NPPA):c.187C>A (p.Leu63Ile) rs951621848 0.00001
NM_006172.4(NPPA):c.206A>C (p.Glu69Ala) rs376184349 0.00001
NM_006172.4(NPPA):c.224G>A (p.Ser75Asn) rs1278794912 0.00001
NM_006172.4(NPPA):c.316G>C (p.Asp106His) rs773332563 0.00001
NM_006172.4(NPPA):c.337A>G (p.Ser113Gly) rs756271433 0.00001
NM_006172.4(NPPA):c.347G>A (p.Arg116Lys) rs745922613 0.00001
NM_006172.4(NPPA):c.368G>A (p.Arg123Gln) rs1278439312 0.00001
NM_006172.4(NPPA):c.370A>G (p.Ser124Gly) rs1215729892 0.00001
NM_006172.4(NPPA):c.372C>A (p.Ser124Arg) rs978766447 0.00001
NM_006172.4(NPPA):c.425G>A (p.Ser142Asn) rs781197146 0.00001
NM_006172.4(NPPA):c.448C>T (p.Arg150Trp) rs778138090 0.00001
NM_006172.4(NPPA):c.78T>A (p.Asn26Lys) rs770401799 0.00001
NM_006172.4(NPPA):c.110T>C (p.Leu37Pro)
NM_006172.4(NPPA):c.114G>A (p.Met38Ile)
NM_006172.4(NPPA):c.118T>C (p.Phe40Leu) rs1645078375
NM_006172.4(NPPA):c.13T>A (p.Ser5Thr)
NM_006172.4(NPPA):c.13T>C (p.Ser5Pro) rs1645079555
NM_006172.4(NPPA):c.13_15del (p.Ser5del) rs1481052479
NM_006172.4(NPPA):c.140T>G (p.Leu47Trp)
NM_006172.4(NPPA):c.159AGA[1] (p.Glu54del)
NM_006172.4(NPPA):c.165T>G (p.Asp55Glu)
NM_006172.4(NPPA):c.16ACC[2] (p.Thr8del) rs760300711
NM_006172.4(NPPA):c.179C>G (p.Pro60Arg)
NM_006172.4(NPPA):c.208G>T (p.Ala70Ser) rs1433555315
NM_006172.4(NPPA):c.209C>G (p.Ala70Gly) rs13305987
NM_006172.4(NPPA):c.219_227del (p.Ser75_Leu77del) rs1557442938
NM_006172.4(NPPA):c.225C>A (p.Ser75Arg) rs1645076017
NM_006172.4(NPPA):c.229del (p.Leu77fs)
NM_006172.4(NPPA):c.250A>C (p.Thr84Pro)
NM_006172.4(NPPA):c.25G>A (p.Val9Met) rs143419574
NM_006172.4(NPPA):c.266C>A (p.Pro89Gln)
NM_006172.4(NPPA):c.277_278del (p.Asp93fs) rs774165756
NM_006172.4(NPPA):c.27G>A (p.Val9=)
NM_006172.4(NPPA):c.281G>T (p.Gly94Val)
NM_006172.4(NPPA):c.305G>A (p.Trp102Ter)
NM_006172.4(NPPA):c.320G>A (p.Arg107Gln) rs369737600
NM_006172.4(NPPA):c.320G>C (p.Arg107Pro)
NM_006172.4(NPPA):c.320G>T (p.Arg107Leu)
NM_006172.4(NPPA):c.329T>C (p.Leu110Pro)
NM_006172.4(NPPA):c.346_354del (p.Arg116_Leu118del) rs768517567
NM_006172.4(NPPA):c.358A>G (p.Thr120Ala) rs1176047776
NM_006172.4(NPPA):c.367C>A (p.Arg123=) rs377057675
NM_006172.4(NPPA):c.367C>T (p.Arg123Trp)
NM_006172.4(NPPA):c.393C>A (p.Phe131Leu) rs768567024
NM_006172.4(NPPA):c.410G>A (p.Arg137Lys)
NM_006172.4(NPPA):c.447C>G (p.Phe149Leu)
NM_006172.4(NPPA):c.47C>T (p.Ala16Val)
NM_006172.4(NPPA):c.58C>G (p.Leu20Val)
NM_006172.4(NPPA):c.59T>C (p.Leu20Pro) rs1645079089
NM_006172.4(NPPA):c.61G>A (p.Gly21Ser) rs138410047
NM_006172.4(NPPA):c.61G>T (p.Gly21Cys)
NM_006172.4(NPPA):c.73G>A (p.Ala25Thr)
NM_006172.4(NPPA):c.85T>C (p.Tyr29His) rs771777356

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