ClinVar Miner

List of variants in gene SH3BP2 reported as uncertain significance by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_001122681.2(SH3BP2):c.*3229T>G rs886059374 0.00086
NM_001122681.2(SH3BP2):c.*4161C>T rs771475877 0.00081
NM_001122681.2(SH3BP2):c.*3175C>T rs886059372 0.00060
NM_001122681.2(SH3BP2):c.*6399_*6400insA rs1553809321 0.00054
NM_001122681.2(SH3BP2):c.*821A>G rs886059362 0.00016
NM_001122681.2(SH3BP2):c.*1116C>T rs760035123 0.00012
NM_001122681.2(SH3BP2):c.*3383C>T rs886059375 0.00010
NM_001122681.2(SH3BP2):c.*3560C>T rs766523218 0.00007
NM_001122681.2(SH3BP2):c.*4776T>C rs886059380 0.00006
NM_001122681.2(SH3BP2):c.*2464T>C rs886059366 0.00005
NM_001122681.2(SH3BP2):c.*6660A>G rs886059390 0.00004
NM_001122681.2(SH3BP2):c.1351-13C>T rs367963191 0.00004
NM_001122681.2(SH3BP2):c.*1947C>T rs770509235 0.00003
NM_001122681.2(SH3BP2):c.*5583G>A rs886059383 0.00003
NM_001122681.2(SH3BP2):c.*6037T>C rs886059385 0.00003
NM_001122681.2(SH3BP2):c.*128T>C rs886059359 0.00002
NM_001122681.2(SH3BP2):c.*1489G>A rs886059364 0.00002
NM_001122681.2(SH3BP2):c.*3387G>A rs886059376 0.00002
NM_001122681.2(SH3BP2):c.*6061G>C rs886059386 0.00002
NM_001122681.2(SH3BP2):c.*3106A>T rs886059369 0.00001
NM_001122681.2(SH3BP2):c.*3111C>G rs886059370 0.00001
NM_001122681.2(SH3BP2):c.*3667G>A rs886059377 0.00001
NM_001122681.2(SH3BP2):c.*88T>C rs886059358 0.00001
NM_001122681.2(SH3BP2):c.-4-1590C>T rs372664062 0.00001
NM_001122681.2(SH3BP2):c.*1401C>T rs886059363
NM_001122681.2(SH3BP2):c.*2353CT[1] rs886059365
NM_001122681.2(SH3BP2):c.*2574G>A rs886059367
NM_001122681.2(SH3BP2):c.*2665C>G rs886059368
NM_001122681.2(SH3BP2):c.*3132TCT[1] rs753767983
NM_001122681.2(SH3BP2):c.*3220T>C rs886059373
NM_001122681.2(SH3BP2):c.*3911C>T rs886059378
NM_001122681.2(SH3BP2):c.*415G>A rs886059360
NM_001122681.2(SH3BP2):c.*4817_*4818dup rs397878760
NM_001122681.2(SH3BP2):c.*5322TCTTTT[2] rs886059381
NM_001122681.2(SH3BP2):c.*5496A>T rs886059382
NM_001122681.2(SH3BP2):c.*5613C>T rs886059384
NM_001122681.2(SH3BP2):c.*5738dup rs1553809216
NM_001122681.2(SH3BP2):c.*618G>A rs886059361
NM_001122681.2(SH3BP2):c.*6419_*6420dup rs568332811
NM_001122681.2(SH3BP2):c.*6420dup rs568332811
NM_001122681.2(SH3BP2):c.*6580del rs886059389
NM_001122681.2(SH3BP2):c.*6928T>C rs886059391
NM_001122681.2(SH3BP2):c.*7167del rs566926916
NM_001122681.2(SH3BP2):c.*7167dup rs566926916
NM_001122681.2(SH3BP2):c.1299A>G (p.Gln433=) rs886059357
NM_001122681.2(SH3BP2):c.398A>C (p.His133Pro) rs886059355
NM_001122681.2(SH3BP2):c.81G>T (p.Val27=) rs745515987

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