ClinVar Miner

List of variants in gene PTPN23 reported as uncertain significance by GeneDx

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_015466.4(PTPN23):c.4618A>G (p.Ile1540Val) rs111852098 0.00120
NM_015466.4(PTPN23):c.257C>T (p.Ser86Leu) rs149197378 0.00117
NM_015466.4(PTPN23):c.4155C>G (p.His1385Gln) rs145347025 0.00041
NM_015466.4(PTPN23):c.1339G>C (p.Gly447Arg) rs574942759 0.00018
NM_015466.4(PTPN23):c.1291C>T (p.Arg431Trp) rs150712932 0.00016
NM_015466.4(PTPN23):c.2074C>T (p.Arg692Cys) rs531510250 0.00015
NM_015466.4(PTPN23):c.1873C>T (p.Arg625Cys) rs143731594 0.00012
NM_015466.4(PTPN23):c.4258G>C (p.Glu1420Gln) rs141407213 0.00011
NM_015466.4(PTPN23):c.424G>T (p.Val142Phe) rs147034860 0.00010
NM_015466.4(PTPN23):c.890C>T (p.Ala297Val) rs146035301 0.00009
NM_015466.4(PTPN23):c.2153C>T (p.Pro718Leu) rs200475039 0.00007
NM_015466.4(PTPN23):c.2006T>C (p.Met669Thr) rs201374534 0.00006
NM_015466.4(PTPN23):c.2416A>G (p.Arg806Gly) rs149495987 0.00006
NM_015466.4(PTPN23):c.3457C>T (p.Arg1153Trp) rs139131794 0.00005
NM_015466.4(PTPN23):c.3745G>A (p.Val1249Met) rs371405630 0.00005
NM_015466.4(PTPN23):c.2633G>A (p.Arg878Gln) rs754520731 0.00004
NM_015466.4(PTPN23):c.4795C>T (p.Arg1599Trp) rs147706627 0.00004
NM_015466.4(PTPN23):c.4178+6G>C rs751549561 0.00003
NM_015466.4(PTPN23):c.4901A>G (p.Asn1634Ser) rs781734247 0.00003
NM_015466.4(PTPN23):c.949G>A (p.Asp317Asn) rs768465983 0.00003
NM_015466.4(PTPN23):c.2522A>G (p.His841Arg) rs1014335331 0.00002
NM_015466.4(PTPN23):c.3626G>A (p.Arg1209His) rs527749239 0.00002
NM_015466.4(PTPN23):c.3816C>G (p.Asp1272Glu) rs755231318 0.00002
NM_015466.4(PTPN23):c.2099G>A (p.Arg700His) rs758841754 0.00001
NM_015466.4(PTPN23):c.2230G>A (p.Glu744Lys) rs1272698903 0.00001
NM_015466.4(PTPN23):c.2348G>A (p.Gly783Glu) rs200557594 0.00001
NM_015466.4(PTPN23):c.2731C>T (p.Pro911Ser) rs1705251062 0.00001
NM_015466.4(PTPN23):c.758A>C (p.His253Pro) rs762047375 0.00001
NM_015466.4(PTPN23):c.814T>A (p.Tyr272Asn) rs772609045 0.00001
NM_015466.4(PTPN23):c.1016T>G (p.Val339Gly)
NM_015466.4(PTPN23):c.1185C>A (p.Asp395Glu)
NM_015466.4(PTPN23):c.1250T>G (p.Ile417Ser)
NM_015466.4(PTPN23):c.1525_1533del (p.Ser509_Thr511del)
NM_015466.4(PTPN23):c.159+5G>A
NM_015466.4(PTPN23):c.166G>A (p.Val56Ile) rs150804434
NM_015466.4(PTPN23):c.1872C>G (p.Asp624Glu) rs2546247744
NM_015466.4(PTPN23):c.2143_2144delinsCC (p.Lys715Pro) rs2546248927
NM_015466.4(PTPN23):c.2339C>T (p.Thr780Ile) rs1705233605
NM_015466.4(PTPN23):c.2513C>G (p.Ser838Cys)
NM_015466.4(PTPN23):c.2692C>G (p.Arg898Gly) rs140769194
NM_015466.4(PTPN23):c.271G>A (p.Ala91Thr) rs760010594
NM_015466.4(PTPN23):c.2777C>T (p.Ala926Val)
NM_015466.4(PTPN23):c.2856GCCCCA[2] (p.954QP[1]) rs552397269
NM_015466.4(PTPN23):c.2856GCCCCA[4] (p.954QP[3]) rs552397269
NM_015466.4(PTPN23):c.326A>G (p.Asp109Gly) rs2107713505
NM_015466.4(PTPN23):c.3350C>T (p.Ala1117Val)
NM_015466.4(PTPN23):c.3502C>A (p.Pro1168Thr) rs2107724994
NM_015466.4(PTPN23):c.383T>G (p.Leu128Arg)
NM_015466.4(PTPN23):c.3886_3888del (p.Lys1296del) rs751809435
NM_015466.4(PTPN23):c.3973A>C (p.Ser1325Arg)
NM_015466.4(PTPN23):c.415-3C>G
NM_015466.4(PTPN23):c.4305dup (p.Leu1436fs) rs1553640721
NM_015466.4(PTPN23):c.4355dup (p.His1452fs)
NM_015466.4(PTPN23):c.4415C>G (p.Ala1472Gly) rs746565994
NM_015466.4(PTPN23):c.4640C>A (p.Pro1547His)
NM_015466.4(PTPN23):c.4640C>G (p.Pro1547Arg) rs145767987
NM_015466.4(PTPN23):c.4719del (p.Ser1574fs) rs746622737
NM_015466.4(PTPN23):c.4790_4793dup (p.Arg1599fs) rs761707253
NM_015466.4(PTPN23):c.507G>A (p.Met169Ile) rs1203098643
NM_015466.4(PTPN23):c.560A>C (p.Glu187Ala) rs2546239808
NM_015466.4(PTPN23):c.775C>A (p.Gln259Lys)

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