ClinVar Miner

List of variants in gene PSTPIP1 reported as uncertain significance by Illumina Clinical Services Laboratory,Illumina

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Gene type:
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Total variants: 17
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HGVS dbSNP
NM_003978.5(PSTPIP1):c.*122G>A rs527679453
NM_003978.5(PSTPIP1):c.*123T>C rs886051494
NM_003978.5(PSTPIP1):c.*145C>T
NM_003978.5(PSTPIP1):c.*98C>G
NM_003978.5(PSTPIP1):c.-280_-276GCTGG[3] rs886051491
NM_003978.5(PSTPIP1):c.-367G>A rs886051490
NM_003978.5(PSTPIP1):c.1079C>T (p.Pro360Leu) rs768897476
NM_003978.5(PSTPIP1):c.1243A>C (p.Lys415Gln)
NM_003978.5(PSTPIP1):c.1248T>C (p.Leu416=) rs556322755
NM_003978.5(PSTPIP1):c.307C>T (p.Arg103Trp) rs768395688
NM_003978.5(PSTPIP1):c.326G>A (p.Arg109His) rs772315853
NM_003978.5(PSTPIP1):c.364G>A (p.Val122Ile) rs886041107
NM_003978.5(PSTPIP1):c.411C>A (p.Ala137=)
NM_003978.5(PSTPIP1):c.418-4_418-3del rs749862420
NM_003978.5(PSTPIP1):c.475G>C (p.Glu159Gln) rs886051493
NM_003978.5(PSTPIP1):c.667C>T (p.Arg223Trp)
NM_003978.5(PSTPIP1):c.668G>A (p.Arg223Gln) rs777380464

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