ClinVar Miner

List of variants in gene PSTPIP1 reported as benign by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

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Total variants: 24
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HGVS dbSNP
NM_003978.5(PSTPIP1):c.*156_*158del rs147238110
NM_003978.5(PSTPIP1):c.*38T>C rs201535027
NM_003978.5(PSTPIP1):c.*51G>A rs117378779
NM_003978.5(PSTPIP1):c.1098G>A (p.Ala366=) rs35538044
NM_003978.5(PSTPIP1):c.1134G>A (p.Leu378=) rs529402949
NM_003978.5(PSTPIP1):c.1143C>T (p.Ser381=) rs141227274
NM_003978.5(PSTPIP1):c.1206C>T (p.Asn402=) rs146035424
NM_003978.5(PSTPIP1):c.137+20del
NM_003978.5(PSTPIP1):c.137+28C>T rs79438763
NM_003978.5(PSTPIP1):c.137+47G>C rs3812911
NM_003978.5(PSTPIP1):c.147G>A (p.Ala49=) rs34618738
NM_003978.5(PSTPIP1):c.204G>A (p.Thr68=) rs113386299
NM_003978.5(PSTPIP1):c.212+12C>T rs3812914
NM_003978.5(PSTPIP1):c.247+20G>A rs188931087
NM_003978.5(PSTPIP1):c.354+20C>T rs184279306
NM_003978.5(PSTPIP1):c.543G>A (p.Lys181=) rs375950478
NM_003978.5(PSTPIP1):c.652C>T (p.Leu218=) rs35677716
NM_003978.5(PSTPIP1):c.773G>C (p.Gly258Ala) rs34240327
NM_003978.5(PSTPIP1):c.837C>T (p.Pro279=) rs149195362
NM_003978.5(PSTPIP1):c.838+145A>G rs4078354
NM_003978.5(PSTPIP1):c.838+40T>C rs77968440
NM_003978.5(PSTPIP1):c.838+45C>G
NM_003978.5(PSTPIP1):c.915C>T (p.Cys305=) rs11858480
NM_003978.5(PSTPIP1):c.940C>T (p.Leu314=) rs201582038

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