ClinVar Miner

List of variants in gene combination HBA2, LOC106804612 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (902):
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Gene type:
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Total variants: 10
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HGVS dbSNP
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln) rs41464951
NM_000517.4(HBA2):c.95+2_95+6delTGAGG rs41474145
NM_000517.4:c.[339C>G;340_351delCTCCCCGCCGAG]
NM_000517.6(HBA2):c.*94A>G rs63751269
NM_000517.6(HBA2):c.207C>G (p.Asn69Lys) rs111033601
NM_000517.6(HBA2):c.2T>C (p.Met1Thr) rs111033603
NM_000517.6(HBA2):c.349G>T (p.Glu117Ter) rs33987053
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro) rs41397847
NM_000517.6(HBA2):c.70G>T (p.Glu24Ter) rs281864819
NM_000517.6(HBA2):c.92_93AG[1] (p.Arg32fs) rs1057519637

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