ClinVar Miner

List of variants reported as pathogenic for chromosome 10 disorder by OMIM

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
GATA3, 250-KB DEL
GATA3, 900-KB DEL
NM_001002295.2(GATA3):c.1025G>A (p.Cys342Tyr) rs387906621
NM_001002295.2(GATA3):c.1059A>T (p.Arg353Ser) rs104894165
NM_001002295.2(GATA3):c.108_109del (p.Met36fs) rs1588374920
NM_001002295.2(GATA3):c.1099C>T (p.Arg367Ter) rs104894164
NM_001002295.2(GATA3):c.431del (p.Gly144fs) rs1588377948
NM_001002295.2(GATA3):c.465_513del (p.Thr156fs)
NM_001002295.2(GATA3):c.478del (p.Asp160fs) rs1588378126
NM_001002295.2(GATA3):c.823T>A (p.Trp275Arg) rs104894163
NM_001002295.2(GATA3):c.829C>T (p.Arg277Ter) rs104894162
NM_001002295.2(GATA3):c.864C>G (p.Cys288Trp) rs746122348
NM_001002295.2(GATA3):c.901delinsAACCCT (p.Leu301fs) rs2131501178
NM_001002295.2(GATA3):c.924+2delinsGCTTACTTCCC rs387906551
NM_001002295.2(GATA3):c.947_958del (p.Thr316_Ala319del) rs2131511647
NM_001002295.2(GATA3):c.951del (p.Cys318fs) rs2131511714
NM_016628.5(WAC):c.112del (p.Ser38fs) rs864321693
NM_016628.5(WAC):c.1721G>A (p.Trp574Ter) rs864321690
NM_016628.5(WAC):c.1852C>T (p.Gln618Ter) rs864321634
NM_016628.5(WAC):c.263_266del (p.Glu88fs) rs864321689
NM_016628.5(WAC):c.267_268dup (p.Asp90fs) rs864321691
NM_016628.5(WAC):c.374C>A (p.Ser125Ter) rs864321692

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