ClinVar Miner

List of variants in gene PACS2 reported as uncertain significance for Inborn genetic diseases

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001100913.3(PACS2):c.913A>G (p.Met305Val) rs370457228 0.00014
NM_001100913.3(PACS2):c.1138C>T (p.Pro380Ser) rs201854785 0.00010
NM_001100913.3(PACS2):c.685G>A (p.Val229Met) rs587705831 0.00006
NM_001100913.3(PACS2):c.649G>A (p.Val217Met) rs147003362 0.00004
NM_001100913.3(PACS2):c.1603A>G (p.Ile535Val) rs782187620 0.00003
NM_001100913.3(PACS2):c.883A>G (p.Met295Val) rs377119981 0.00003
NM_001100913.3(PACS2):c.128G>A (p.Ser43Asn) rs781847893 0.00002
NM_001100913.3(PACS2):c.1150C>A (p.Pro384Thr) rs782701010 0.00001
NM_001100913.3(PACS2):c.1190C>T (p.Thr397Ile) rs2080973067 0.00001
NM_001100913.3(PACS2):c.134C>A (p.Thr45Asn) rs1555403142 0.00001
NM_001100913.3(PACS2):c.1413+2T>C rs781944618 0.00001
NM_001100913.3(PACS2):c.1582G>A (p.Val528Ile) rs201367145 0.00001
NM_001100913.3(PACS2):c.1589C>T (p.Ala530Val) rs375996521 0.00001
NM_001100913.3(PACS2):c.1813G>A (p.Val605Met) rs782312228 0.00001
NM_001100913.3(PACS2):c.1819T>A (p.Tyr607Asn) rs1365157286 0.00001
NM_001100913.3(PACS2):c.707G>A (p.Arg236Gln) rs782422954 0.00001
NM_001100913.3(PACS2):c.878T>C (p.Leu293Pro) rs782182115 0.00001
NM_001100913.3(PACS2):c.898G>A (p.Asp300Asn) rs782773260 0.00001
NM_001100913.3(PACS2):c.1018A>G (p.Ser340Gly) rs782491490
NM_001100913.3(PACS2):c.1049C>A (p.Pro350Gln)
NM_001100913.3(PACS2):c.1057G>A (p.Val353Met) rs1455297417
NM_001100913.3(PACS2):c.1139C>G (p.Pro380Arg) rs374328880
NM_001100913.3(PACS2):c.1205C>A (p.Thr402Lys) rs139419197
NM_001100913.3(PACS2):c.1381G>C (p.Asp461His)
NM_001100913.3(PACS2):c.1387C>T (p.Arg463Trp) rs782112732
NM_001100913.3(PACS2):c.1546A>G (p.Thr516Ala) rs2544813181
NM_001100913.3(PACS2):c.1612C>T (p.Arg538Trp) rs982124932
NM_001100913.3(PACS2):c.1792G>T (p.Val598Leu) rs781953013
NM_001100913.3(PACS2):c.1885A>G (p.Ser629Gly) rs1242333746
NM_001100913.3(PACS2):c.1887T>A (p.Ser629Arg)
NM_001100913.3(PACS2):c.2038G>A (p.Asp680Asn)
NM_001100913.3(PACS2):c.2180C>G (p.Ala727Gly)
NM_001100913.3(PACS2):c.2197G>A (p.Glu733Lys) rs2544889525
NM_001100913.3(PACS2):c.2239G>A (p.Gly747Ser) rs782686270
NM_001100913.3(PACS2):c.2305G>A (p.Ala769Thr) rs1555415230
NM_001100913.3(PACS2):c.2335_2349del (p.Ala779_Asp783del) rs1654497416
NM_001100913.3(PACS2):c.234T>G (p.His78Gln)
NM_001100913.3(PACS2):c.470G>T (p.Ser157Ile) rs782804554
NM_001100913.3(PACS2):c.688G>A (p.Gly230Arg)
NM_001100913.3(PACS2):c.725C>G (p.Thr242Arg) rs780880602
NM_001100913.3(PACS2):c.740G>C (p.Arg247Thr) rs1555408570
NM_001100913.3(PACS2):c.848A>G (p.Glu283Gly) rs141446475
NM_001100913.3(PACS2):c.859G>A (p.Asp287Asn) rs781826931

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