ClinVar Miner

List of variants reported as benign for Pyogenic arthritis-pyoderma gangrenosum-acne syndrome by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_003978.5(PSTPIP1):c.915C>T (p.Cys305=) rs11858480 0.04154
NM_003978.5(PSTPIP1):c.773G>C (p.Gly258Ala) rs34240327 0.01363
NM_003978.5(PSTPIP1):c.642+16G>A rs78282498 0.01035
NM_003978.5(PSTPIP1):c.204G>A (p.Thr68=) rs113386299 0.00891
NM_003978.5(PSTPIP1):c.137+20del rs199952167 0.00688
NM_003978.5(PSTPIP1):c.212+12C>T rs3812914 0.00534
NM_003978.5(PSTPIP1):c.354+20C>T rs184279306 0.00523
NM_003978.5(PSTPIP1):c.1098G>A (p.Ala366=) rs35538044 0.00501
NM_003978.5(PSTPIP1):c.940C>T (p.Leu314=) rs201582038 0.00495
NM_003978.5(PSTPIP1):c.1112C>T (p.Thr371Ile) rs34908107 0.00355
NM_003978.5(PSTPIP1):c.1206C>T (p.Asn402=) rs146035424 0.00308
NM_003978.5(PSTPIP1):c.908C>T (p.Pro303Leu) rs189773500 0.00298
NM_003978.5(PSTPIP1):c.236C>T (p.Ser79Phe) rs77026017 0.00284
NM_003978.5(PSTPIP1):c.652C>T (p.Leu218=) rs35677716 0.00279
NM_003978.5(PSTPIP1):c.147G>A (p.Ala49=) rs34618738 0.00264
NM_003978.5(PSTPIP1):c.543G>A (p.Lys181=) rs375950478 0.00232
NM_003978.5(PSTPIP1):c.786C>T (p.Asp262=) rs35860563 0.00224
NM_003978.5(PSTPIP1):c.985+6G>C rs139552419 0.00191
NM_003978.5(PSTPIP1):c.799A>G (p.Ser267Gly) rs145239831 0.00173
NM_003978.5(PSTPIP1):c.657A>C (p.Gln219His) rs139362350 0.00166
NM_003978.5(PSTPIP1):c.1143C>T (p.Ser381=) rs141227274 0.00164
NM_003978.5(PSTPIP1):c.985+19G>T rs192912170 0.00163
NM_003978.5(PSTPIP1):c.247+20G>A rs188931087 0.00114
NM_003978.5(PSTPIP1):c.418-20A>G rs545542379 0.00088
NM_003978.5(PSTPIP1):c.1134G>A (p.Leu378=) rs529402949 0.00082
NM_003978.5(PSTPIP1):c.203C>T (p.Thr68Met) rs201872851 0.00041
NM_003978.5(PSTPIP1):c.563-8G>A rs183441330 0.00037
NM_003978.5(PSTPIP1):c.418-6C>A rs200018722 0.00034
NM_003978.5(PSTPIP1):c.929+17C>T rs372335370 0.00028
NM_003978.5(PSTPIP1):c.1151A>G (p.Asp384Gly) rs200771233 0.00025
NM_003978.5(PSTPIP1):c.555C>T (p.Thr185=) rs370782742 0.00014
NM_003978.5(PSTPIP1):c.37T>G (p.Cys13Gly) rs376128040 0.00013
NM_003978.5(PSTPIP1):c.1116G>A (p.Ala372=) rs369835681 0.00011
NM_003978.5(PSTPIP1):c.687C>T (p.Asn229=) rs542286074 0.00004
NM_003978.5(PSTPIP1):c.1086G>A (p.Gln362=) rs528187669
NM_003978.5(PSTPIP1):c.1144G>A (p.Ala382Thr) rs145344175
NM_003978.5(PSTPIP1):c.1207G>C (p.Gly403Arg) rs369113632
NM_003978.5(PSTPIP1):c.1221C>A (p.Phe407Leu) rs200363654
NM_003978.5(PSTPIP1):c.1233C>T (p.Ser411=) rs538042433
NM_003978.5(PSTPIP1):c.138-5del
NM_003978.5(PSTPIP1):c.138-5dup rs755268431
NM_003978.5(PSTPIP1):c.837C>T (p.Pro279=) rs149195362
NM_003978.5(PSTPIP1):c.839-12dup rs759640462
NM_003978.5(PSTPIP1):c.839-17C>A rs770543515
NM_003978.5(PSTPIP1):c.985+10dup rs2152691746

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