ClinVar Miner

List of variants in gene PHACTR1

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Gene type:
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Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_030948.6(PHACTR1):c.251-149640A>G rs9349379 0.32564
NM_030948.6(PHACTR1):c.900C>T (p.Thr300=) rs73725623 0.04958
NM_030948.6(PHACTR1):c.664+2189A>C rs77998548 0.00742
NM_030948.6(PHACTR1):c.975G>A (p.Gln325=) rs61745587 0.00330
NM_030948.6(PHACTR1):c.251-119552C>T rs139710456 0.00297
NM_030948.6(PHACTR1):c.297C>T (p.Val99=) rs141282814 0.00145
NM_030948.6(PHACTR1):c.201C>T (p.Ser67=) rs199546311 0.00137
NM_030948.6(PHACTR1):c.251-39335G>T rs145145067 0.00137
NM_030948.6(PHACTR1):c.664+2241G>T rs78929850 0.00084
NM_030948.6(PHACTR1):c.664+10C>T rs143168559 0.00070
NM_030948.6(PHACTR1):c.251-39358C>A rs994802085 0.00066
NM_030948.6(PHACTR1):c.251-39359G>A rs962079940 0.00066
NM_030948.6(PHACTR1):c.1335G>A (p.Arg445=) rs146889071 0.00054
NM_030948.6(PHACTR1):c.750C>T (p.Pro250=) rs80070708 0.00038
NM_030948.6(PHACTR1):c.717G>A (p.Pro239=) rs373195107 0.00023
NM_030948.6(PHACTR1):c.1155C>T (p.Tyr385=) rs139729794 0.00017
NM_030948.6(PHACTR1):c.1206C>T (p.Asp402=) rs200995179 0.00015
NM_030948.6(PHACTR1):c.294C>T (p.Leu98=) rs373688362 0.00013
NM_030948.6(PHACTR1):c.840C>T (p.Pro280=) rs534478686 0.00007
NM_030948.6(PHACTR1):c.920C>T (p.Pro307Leu) rs376549077 0.00006
NM_030948.6(PHACTR1):c.1215C>T (p.Asp405=) rs774700729 0.00005
NM_030948.6(PHACTR1):c.664+2178C>G rs761790090 0.00005
NM_030948.6(PHACTR1):c.778T>C (p.Ser260Pro) rs369952844 0.00005
NM_030948.6(PHACTR1):c.868G>A (p.Gly290Ser) rs772377879 0.00005
NM_030948.6(PHACTR1):c.1212C>T (p.Asp404=) rs762931495 0.00004
NM_030948.6(PHACTR1):c.1000G>T (p.Val334Phe) rs1770051610 0.00001
NM_030948.6(PHACTR1):c.1028C>G (p.Ser343Cys) rs1770056234 0.00001
NM_030948.6(PHACTR1):c.1095G>T (p.Val365=) rs1280924287 0.00001
NM_030948.6(PHACTR1):c.1207G>A (p.Glu403Lys) rs765015756 0.00001
NM_030948.6(PHACTR1):c.1260G>A (p.Arg420=) rs1268550417 0.00001
NM_030948.6(PHACTR1):c.163A>G (p.Ile55Val) rs928863874 0.00001
NM_030948.6(PHACTR1):c.164T>C (p.Ile55Thr) rs760163672 0.00001
NM_030948.6(PHACTR1):c.407C>T (p.Thr136Met) rs754343376 0.00001
NM_030948.6(PHACTR1):c.470G>A (p.Gly157Glu) rs2547951662 0.00001
NM_030948.6(PHACTR1):c.564G>A (p.Gln188=) rs1157374830 0.00001
NM_030948.6(PHACTR1):c.829A>G (p.Thr277Ala) rs1475314942 0.00001
GRCh37/hg19 6p24.1(chr6:13211952-13268211)x3
GRCh38/hg38 6p24.1(chr6:12922627-13137423)x1
NM_030948.3:c.251-63908_415+29843dup
NM_030948.6(PHACTR1):c.1000G>C (p.Val334Leu) rs1770051610
NM_030948.6(PHACTR1):c.1043G>A (p.Gly348Asp) rs1267979162
NM_030948.6(PHACTR1):c.1084A>G (p.Ile362Val)
NM_030948.6(PHACTR1):c.1090C>G (p.Gln364Glu)
NM_030948.6(PHACTR1):c.1101T>G (p.Thr367=) rs1770073970
NM_030948.6(PHACTR1):c.1235-1G>C
NM_030948.6(PHACTR1):c.1252G>T (p.Val418Phe) rs756423380
NM_030948.6(PHACTR1):c.1256G>C (p.Cys419Ser) rs1468591163
NM_030948.6(PHACTR1):c.1278C>G (p.Ile426Met) rs1273417376
NM_030948.6(PHACTR1):c.1300A>G (p.Lys434Glu) rs2548200019
NM_030948.6(PHACTR1):c.1388C>T (p.Thr463Ile) rs2548200517
NM_030948.6(PHACTR1):c.1391+978_1391+1218del rs2548208816
NM_030948.6(PHACTR1):c.1392-19812A>T
NM_030948.6(PHACTR1):c.190C>G (p.Arg64Gly) rs868040089
NM_030948.6(PHACTR1):c.191G>T (p.Arg64Leu) rs2546854642
NM_030948.6(PHACTR1):c.206C>A (p.Thr69Lys) rs1305654074
NM_030948.6(PHACTR1):c.209C>G (p.Pro70Arg) rs2546854717
NM_030948.6(PHACTR1):c.241C>A (p.Leu81Met) rs200383533
NM_030948.6(PHACTR1):c.247_248delinsAA (p.Ala83Lys)
NM_030948.6(PHACTR1):c.250+8924C>G rs1427631629
NM_030948.6(PHACTR1):c.251-119685G>A rs144313630
NM_030948.6(PHACTR1):c.251-39256A>G
NM_030948.6(PHACTR1):c.251-39259A>G rs1799820002
NM_030948.6(PHACTR1):c.251-39420G>T rs2547502900
NM_030948.6(PHACTR1):c.251-39465C>G
NM_030948.6(PHACTR1):c.259G>A (p.Val87Met)
NM_030948.6(PHACTR1):c.275C>T (p.Ala92Val) rs767982489
NM_030948.6(PHACTR1):c.323G>A (p.Arg108His)
NM_030948.6(PHACTR1):c.382A>G (p.Lys128Glu)
NM_030948.6(PHACTR1):c.407C>G (p.Thr136Arg) rs754343376
NM_030948.6(PHACTR1):c.408G>A (p.Thr136=)
NM_030948.6(PHACTR1):c.416-1G>T
NM_030948.6(PHACTR1):c.425G>A (p.Arg142Lys)
NM_030948.6(PHACTR1):c.446G>A (p.Ser149Asn) rs1204518733
NM_030948.6(PHACTR1):c.490G>A (p.Asp164Asn) rs1758797444
NM_030948.6(PHACTR1):c.497-19C>G rs2113720727
NM_030948.6(PHACTR1):c.500G>A (p.Gly167Glu)
NM_030948.6(PHACTR1):c.515C>G (p.Ser172Cys) rs749820467
NM_030948.6(PHACTR1):c.521A>C (p.Glu174Ala) rs991796097
NM_030948.6(PHACTR1):c.580C>G (p.Leu194Val)
NM_030948.6(PHACTR1):c.641C>T (p.Pro214Leu)
NM_030948.6(PHACTR1):c.664+2247C>A rs1762647053
NM_030948.6(PHACTR1):c.664+2260T>A rs1322402598
NM_030948.6(PHACTR1):c.717G>T (p.Pro239=) rs373195107
NM_030948.6(PHACTR1):c.755G>T (p.Gly252Val)
NM_030948.6(PHACTR1):c.901G>A (p.Gly301Ser)
NM_030948.6(PHACTR1):c.917_918delinsTT (p.His306Leu) rs2548114138
NM_030948.6(PHACTR1):c.942C>A (p.Asp314Glu) rs749324917
NM_030948.6(PHACTR1):c.964A>G (p.Met322Val) rs2548114527
NM_030948.6(PHACTR1):c.967A>G (p.Thr323Ala)

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