ClinVar Miner

List of variants reported as uncertain significance for immune system disorder by Molecular Pathology Research Laboratory, SA Pathology

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_032638.5(GATA2):c.1286G>C (p.Ser429Thr) rs201155045 0.00003
NM_032638.5(GATA2):c.1143+8C>T rs555534597 0.00002
NM_032638.5(GATA2):c.1243G>A (p.Glu415Lys) rs1345163538 0.00002
NM_032638.5(GATA2):c.1024G>A (p.Ala342Thr) rs751285156 0.00001
NM_032638.5(GATA2):c.1017+532T>A rs2107669881
NM_032638.5(GATA2):c.1017+582G>T rs1296477757
NM_032638.5(GATA2):c.1017+693dup rs1255750954
NM_032638.5(GATA2):c.1021G>C (p.Ala341Pro) rs2068635788
NM_032638.5(GATA2):c.1036G>A (p.Gly346Ser) rs1559985135
NM_032638.5(GATA2):c.229+13_229+14insCGCGCGTCTCCTACAGCCCCGCGCACGGTGAGCACTGGGCGCC rs2107673349
NM_032638.5(GATA2):c.761C>T (p.Pro254Leu) rs387906630
NM_032638.5(GATA2):c.950A>G (p.Asn317Ser) rs2068661734
NM_032638.5(GATA2):c.981G>A (p.Gly327=) rs2068661291

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