ClinVar Miner

List of variants studied for Atrial fibrillation, familial, 6 by Invitae

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Total variants: 136
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HGVS dbSNP gnomAD frequency
NM_006172.4(NPPA):c.454T>C (p.Ter152Arg) rs5065 0.21442
NM_006172.4(NPPA):c.123+16C>T rs5064 0.13980
NM_006172.4(NPPA):c.94G>A (p.Val32Met) rs5063 0.05144
NM_006172.4(NPPA):c.292G>A (p.Gly98Arg) rs142022010 0.00242
NM_006172.4(NPPA):c.83T>C (p.Met28Thr) rs142116829 0.00217
NM_006172.4(NPPA):c.190A>C (p.Ser64Arg) rs61757261 0.00165
NM_006172.4(NPPA):c.171C>T (p.Val57=) rs61757262 0.00106
NM_006172.4(NPPA):c.135C>T (p.Asp45=) rs148712945 0.00063
NM_006172.4(NPPA):c.352C>A (p.Leu118Met) rs147081122 0.00060
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.198G>A (p.Pro66=) rs767807184 0.00010
NM_006172.4(NPPA):c.375G>A (p.Leu125=) rs765926210 0.00010
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.390C>T (p.Cys130=) rs774295577 0.00006
NM_006172.4(NPPA):c.124-7T>C rs574725428 0.00005
NM_006172.4(NPPA):c.272A>G (p.Gln91Arg) rs201879717 0.00005
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.252C>T (p.Thr84=) rs755212754 0.00004
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.393C>T (p.Phe131=) rs768567024 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.111G>C (p.Leu37=) rs751792176 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.24C>T (p.Thr8=) rs548535773 0.00001
NM_006172.4(NPPA):c.255G>A (p.Gly85=) rs1557442880 0.00001
NM_006172.4(NPPA):c.291C>T (p.Leu97=) rs941079012 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.451-4G>T rs1645066196 0.00001
NM_006172.4(NPPA):c.78T>A (p.Asn26Lys) rs770401799 0.00001
NC_000001.10:g.(?_10698999)_(11907741_?)dup
NC_000001.11:g.(?_11012634)_(11934865_?)del
NM_006172.4(NPPA):c.102C>T (p.Asn34=)
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.123+17G>A
NM_006172.4(NPPA):c.123+17G>C rs761089549
NM_006172.4(NPPA):c.123+7C>T
NM_006172.4(NPPA):c.124-12C>T
NM_006172.4(NPPA):c.124-20T>C rs373867029
NM_006172.4(NPPA):c.124-28_124-19del
NM_006172.4(NPPA):c.124-5T>C
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>C (p.Asp55=) rs941150669
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.196C>A (p.Pro66Thr)
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.210G>A (p.Ala70=)
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.264C>T (p.Ser88=) rs1645075676
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.297G>C (p.Arg99=)
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.327C>T (p.Ala109=)
NM_006172.4(NPPA):c.329T>C (p.Leu110Pro)
NM_006172.4(NPPA):c.336A>G (p.Lys112=)
NM_006172.4(NPPA):c.346_354del (p.Arg116_Leu118del) rs768517567
NM_006172.4(NPPA):c.351G>A (p.Ala117=) rs1473148185
NM_006172.4(NPPA):c.358A>G (p.Thr120Ala) rs1176047776
NM_006172.4(NPPA):c.363C>T (p.Ala121=)
NM_006172.4(NPPA):c.367C>A (p.Arg123=) rs377057675
NM_006172.4(NPPA):c.367C>T (p.Arg123Trp)
NM_006172.4(NPPA):c.387C>T (p.Ser129=)
NM_006172.4(NPPA):c.393C>A (p.Phe131Leu) rs768567024
NM_006172.4(NPPA):c.410G>A (p.Arg137Lys)
NM_006172.4(NPPA):c.423G>A (p.Gln141=)
NM_006172.4(NPPA):c.426C>T (p.Ser142=) rs747448548
NM_006172.4(NPPA):c.435C>T (p.Gly145=)
NM_006172.4(NPPA):c.441C>T (p.Asn147=)
NM_006172.4(NPPA):c.447C>G (p.Phe149Leu)
NM_006172.4(NPPA):c.450+16G>A
NM_006172.4(NPPA):c.450+16del
NM_006172.4(NPPA):c.450+20G>A
NM_006172.4(NPPA):c.450+8G>A
NM_006172.4(NPPA):c.451-16T>C
NM_006172.4(NPPA):c.451-18T>A
NM_006172.4(NPPA):c.451-9T>G rs776697644
NM_006172.4(NPPA):c.454_455inv (p.Ter152Gln)
NM_006172.4(NPPA):c.45G>A (p.Leu15=)
NM_006172.4(NPPA):c.45G>T (p.Leu15=)
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
NM_006172.4(NPPA):c.93C>A (p.Ala31=) rs374257969
NM_006172.4(NPPA):c.93C>T (p.Ala31=) rs374257969
NM_006172.4(NPPA):c.9C>A (p.Ser3=) rs1557443346

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