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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_003978.5(PSTPIP1):c.838+145A>G	rs4078354	0.59602
NM_003978.5(PSTPIP1):c.915C>T (p.Cys305=)	rs11858480	0.04154
NM_003978.5(PSTPIP1):c.137+28C>T	rs79438763	0.02640
NM_003978.5(PSTPIP1):c.838+40T>C	rs77968440	0.01919
NM_003978.5(PSTPIP1):c.*51G>A	rs117378779	0.01876
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.*38T>C	rs201535027	0.00346
NM_003978.5(PSTPIP1):c.1206C>T (p.Asn402=)	rs146035424	0.00308
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.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.1134G>A (p.Leu378=)	rs529402949	0.00082
NM_003978.5(PSTPIP1):c.156_158del	rs147238110
NM_003978.5(PSTPIP1):c.1144G>A (p.Ala382Thr)	rs145344175
NM_003978.5(PSTPIP1):c.137+47G>C	rs3812911
NM_003978.5(PSTPIP1):c.837C>T (p.Pro279=)	rs149195362
NM_003978.5(PSTPIP1):c.838+45C>G	rs116895455

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