ClinVar Miner

List of variants in gene PSTPIP1 studied for not specified

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Gene type:
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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_003978.5(PSTPIP1):c.838+145A>G rs4078354 0.59602
NM_003978.5(PSTPIP1):c.36+68G>A rs2254441 0.29575
NM_003978.5(PSTPIP1):c.562+114C>T rs3935339 0.28862
NM_003978.5(PSTPIP1):c.642+107C>A rs12903227 0.23133
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.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.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.652C>T (p.Leu218=) rs35677716 0.00279
NM_003978.5(PSTPIP1):c.147G>A (p.Ala49=) rs34618738 0.00264
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.657A>C (p.Gln219His) rs139362350 0.00166
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.563-8G>A rs183441330 0.00037
NM_003978.5(PSTPIP1):c.418-6C>A rs200018722 0.00034
NM_003978.5(PSTPIP1):c.354+10G>A rs370745407 0.00032
NM_003978.5(PSTPIP1):c.929+17C>T rs372335370 0.00028
NM_003978.5(PSTPIP1):c.882G>A (p.Pro294=) rs200796501 0.00027
NM_003978.5(PSTPIP1):c.1208G>A (p.Gly403Glu) rs201572812 0.00026
NM_003978.5(PSTPIP1):c.1115C>T (p.Ala372Val) rs200188483 0.00014
NM_003978.5(PSTPIP1):c.555C>T (p.Thr185=) rs370782742 0.00014
NM_003978.5(PSTPIP1):c.856A>G (p.Asn286Asp) rs377437961 0.00013
NM_003978.5(PSTPIP1):c.1116G>A (p.Ala372=) rs369835681 0.00011
NM_003978.5(PSTPIP1):c.1014C>T (p.Pro338=) rs368838637 0.00009
NM_003978.5(PSTPIP1):c.1182T>C (p.Asp394=) rs199804922 0.00009
NM_003978.5(PSTPIP1):c.838+31C>G rs545108125 0.00004
NM_003978.5(PSTPIP1):c.847C>T (p.Pro283Ser) rs774891463 0.00004
NM_003978.5(PSTPIP1):c.355-17C>T rs886038536 0.00003
NM_003978.5(PSTPIP1):c.418-18G>A rs1281406107 0.00003
NM_003978.5(PSTPIP1):c.747C>T (p.Tyr249=) rs557759616 0.00003
NM_003978.5(PSTPIP1):c.643-13C>A rs200459219 0.00002
NM_003978.5(PSTPIP1):c.792C>T (p.Asp264=) rs1224633016 0.00002
NM_003978.5(PSTPIP1):c.138-6T>C rs765550656 0.00001
NM_003978.5(PSTPIP1):c.488C>T (p.Ala163Val) rs774530073 0.00001
NM_003978.5(PSTPIP1):c.493G>A (p.Gly165Ser) rs762291063 0.00001
NM_003978.5(PSTPIP1):c.564G>A (p.Glu188=) rs879253893 0.00001
NM_003978.5(PSTPIP1):c.675C>T (p.Thr225=) rs770958110 0.00001
NM_003978.5(PSTPIP1):c.838+10G>A rs747042572 0.00001
NM_003978.5(PSTPIP1):c.-16C>T rs372407300
NM_003978.5(PSTPIP1):c.1072G>C (p.Ala358Pro) rs749462900
NM_003978.5(PSTPIP1):c.1221C>A (p.Phe407Leu) rs200363654
NM_003978.5(PSTPIP1):c.137+47G>C rs3812911
NM_003978.5(PSTPIP1):c.138-8T>C rs1057523945
NM_003978.5(PSTPIP1):c.36+15T>C rs752123803
NM_003978.5(PSTPIP1):c.37-2102G>A
NM_003978.5(PSTPIP1):c.37-2234C>T
NM_003978.5(PSTPIP1):c.558G>A (p.Glu186=) rs879254120
NM_003978.5(PSTPIP1):c.563-9C>T rs768152191
NM_003978.5(PSTPIP1):c.642+87T>C rs2469237
NM_003978.5(PSTPIP1):c.657A>G (p.Gln219=) rs139362350
NM_003978.5(PSTPIP1):c.837C>G (p.Pro279=) rs149195362
NM_003978.5(PSTPIP1):c.837C>T (p.Pro279=) rs149195362
NM_003978.5(PSTPIP1):c.838+17G>C rs371715620
NM_003978.5(PSTPIP1):c.839-12dup rs759640462
NM_003978.5(PSTPIP1):c.839-4G>A rs1367241638
NM_003978.5(PSTPIP1):c.986-33dup rs11373069

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