ClinVar Miner

List of variants in gene PACS1 reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_018026.4(PACS1):c.2777-3T>C rs524268 0.98359
NM_018026.4(PACS1):c.957C>G (p.Thr319=) rs76179533 0.01539
NM_018026.4(PACS1):c.102G>A (p.Pro34=) rs75352646 0.01498
NM_018026.4(PACS1):c.2061T>A (p.Ser687=) rs572697 0.01482
NM_018026.4(PACS1):c.858A>C (p.Ser286=) rs114730283 0.00432
NM_018026.4(PACS1):c.1969A>C (p.Met657Leu) rs115947278 0.00414
NM_018026.4(PACS1):c.2376C>T (p.Ala792=) rs145601427 0.00270
NM_018026.4(PACS1):c.535-4G>A rs112192900 0.00140
NM_018026.4(PACS1):c.2581C>T (p.Leu861=) rs201326960 0.00083
NM_018026.4(PACS1):c.2139C>T (p.Tyr713=) rs61736585 0.00060
NM_018026.4(PACS1):c.631T>C (p.Leu211=) rs151082834 0.00035
NM_018026.4(PACS1):c.637G>A (p.Val213Met) rs142653069 0.00026
NM_018026.4(PACS1):c.1617C>T (p.His539=) rs113972076 0.00024
NM_018026.4(PACS1):c.2593G>C (p.Gly865Arg) rs202231158 0.00018
NM_018026.4(PACS1):c.2358G>A (p.Ser786=) rs200716334 0.00017
NM_018026.4(PACS1):c.2178C>T (p.Ala726=) rs138700761 0.00016
NM_018026.4(PACS1):c.399A>G (p.Glu133=) rs924931141 0.00015
NM_018026.4(PACS1):c.535-5C>T rs144180500 0.00014
NM_018026.4(PACS1):c.1293+6C>T rs369639320 0.00012
NM_018026.4(PACS1):c.2309C>T (p.Ser770Phe) rs141739303 0.00008
NM_018026.4(PACS1):c.2454C>T (p.Asp818=) rs142615271 0.00007
NM_018026.4(PACS1):c.2115C>T (p.Asp705=) rs372958348 0.00006
NM_018026.4(PACS1):c.2296G>A (p.Asp766Asn) rs375682747 0.00006
NM_018026.4(PACS1):c.2514C>T (p.Gly838=) rs199684328 0.00006
NM_018026.4(PACS1):c.44G>C (p.Gly15Ala) rs1033935480 0.00006
NM_018026.4(PACS1):c.563A>G (p.Asn188Ser) rs200950761 0.00005
NM_018026.4(PACS1):c.1760G>A (p.Arg587Gln) rs201700614 0.00004
NM_018026.4(PACS1):c.2281C>A (p.Pro761Thr) rs578033982 0.00004
NM_018026.4(PACS1):c.2198G>A (p.Arg733Gln) rs116546787 0.00003
NM_018026.4(PACS1):c.2327C>G (p.Thr776Ser) rs140167187 0.00003
NM_018026.4(PACS1):c.430G>A (p.Ala144Thr) rs201877943 0.00003
NM_018026.4(PACS1):c.711C>T (p.Asn237=) rs372723893 0.00003
NM_018026.4(PACS1):c.83C>G (p.Ser28Cys) rs763294619 0.00003
NM_018026.4(PACS1):c.1182G>A (p.Thr394=) rs765439755 0.00002
NM_018026.4(PACS1):c.1457G>A (p.Ser486Asn) rs770126115 0.00002
NM_018026.4(PACS1):c.2207+5G>C rs1285923468 0.00002
NM_018026.4(PACS1):c.636C>T (p.Ala212=) rs1487851344 0.00002
NM_018026.4(PACS1):c.1319T>A (p.Ile440Asn) rs1186664977 0.00001
NM_018026.4(PACS1):c.1428G>A (p.Pro476=) rs531107781 0.00001
NM_018026.4(PACS1):c.2370A>T (p.Arg790=) rs199806038 0.00001
NM_018026.4(PACS1):c.2508G>A (p.Arg836=) rs780652481 0.00001
NM_018026.4(PACS1):c.908A>G (p.Tyr303Cys) rs1454114391 0.00001
NM_018026.4(PACS1):c.104AGC[7] (p.Gln40_Pro41insGln)
NM_018026.4(PACS1):c.1056G>T (p.Glu352Asp)
NM_018026.4(PACS1):c.1068C>T (p.Arg356=)
NM_018026.4(PACS1):c.110_133del (p.Gln37_Gln44del)
NM_018026.4(PACS1):c.110_133dup (p.Gln37_Gln44dup) rs756417166
NM_018026.4(PACS1):c.124_135del (p.Pro42_Pro45del)
NM_018026.4(PACS1):c.125C>T (p.Pro42Leu)
NM_018026.4(PACS1):c.1272C>T (p.Leu424=)
NM_018026.4(PACS1):c.1473G>C (p.Gln491His)
NM_018026.4(PACS1):c.1476C>T (p.Gly492=)
NM_018026.4(PACS1):c.1504G>A (p.Val502Met) rs1185372426
NM_018026.4(PACS1):c.1511C>T (p.Thr504Ile)
NM_018026.4(PACS1):c.1594G>A (p.Glu532Lys) rs768985045
NM_018026.4(PACS1):c.1627-3C>T rs1565157195
NM_018026.4(PACS1):c.1775G>A (p.Cys592Tyr)
NM_018026.4(PACS1):c.1826G>A (p.Arg609Gln)
NM_018026.4(PACS1):c.2144A>G (p.Asn715Ser)
NM_018026.4(PACS1):c.2315T>C (p.Val772Ala)
NM_018026.4(PACS1):c.2526C>T (p.Asp842=)
NM_018026.4(PACS1):c.2528C>T (p.Ala843Val)
NM_018026.4(PACS1):c.357-4C>T
NM_018026.4(PACS1):c.46G>T (p.Gly16Cys)
NM_018026.4(PACS1):c.490A>G (p.Ser164Gly)
NM_018026.4(PACS1):c.511C>T (p.Leu171Phe)
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018026.4(PACS1):c.661-5C>G rs79265330
NM_018026.4(PACS1):c.729G>T (p.Val243=)
NM_018026.4(PACS1):c.77C>T (p.Ala26Val)
NM_018026.4(PACS1):c.808C>T (p.Arg270Cys)
NM_018026.4(PACS1):c.863A>T (p.Glu288Val)
NM_018026.4(PACS1):c.897+5C>T
NM_018026.4(PACS1):c.89A>C (p.Gln30Pro)
NM_018026.4(PACS1):c.943C>T (p.Arg315Trp)
NM_018026.4(PACS1):c.95C>A (p.Pro32Gln)

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