ClinVar Miner

List of variants studied for inherited sideroblastic anemia by Baylor Genetics

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001040436.3(YARS2):c.751A>G (p.Ile251Val) rs372098364 0.00007
NM_025215.6(PUS1):c.430C>T (p.Arg144Trp) rs104894371 0.00003
NM_016417.3(GLRX5):c.314A>G (p.Asn105Ser) rs773847949 0.00001
NM_025215.6(PUS1):c.717C>A (p.Tyr239Ter) rs779651314 0.00001
NM_001040436.3(YARS2):c.1427A>G (p.Gln476Arg) rs1955656296
NM_001040436.3(YARS2):c.359dup (p.Asp121fs) rs797045077
NM_001271696.3(ABCB7):c.358A>G (p.Ile120Val)
NM_016417.3(GLRX5):c.322A>G (p.Thr108Ala) rs1891515868
NM_017875.4(SLC25A38):c.70-2A>C rs1233124208
NM_025215.6(PUS1):c.107_122del (p.Pro36fs)
NM_025215.6(PUS1):c.107_122dup (p.Cys42fs)
NM_025215.6(PUS1):c.1237-2A>G
NM_025215.6(PUS1):c.130dup (p.Gln44fs)
NM_025215.6(PUS1):c.178del (p.Glu60fs)
NM_025215.6(PUS1):c.418C>T (p.Gln140Ter)
NM_025215.6(PUS1):c.442-1G>T
NM_025215.6(PUS1):c.460C>T (p.Gln154Ter)
NM_025215.6(PUS1):c.517C>T (p.His173Tyr)
NM_025215.6(PUS1):c.517del (p.His173fs)
NM_025215.6(PUS1):c.545-1G>A
NM_025215.6(PUS1):c.679G>A (p.Glu227Lys)
NM_025215.6(PUS1):c.813del (p.Phe272fs) rs1566148136
NM_025215.6(PUS1):c.877C>T (p.Gln293Ter)
NM_025215.6(PUS1):c.893_896del (p.Val298fs)
NM_025215.6(PUS1):c.916A>T (p.Lys306Ter)
NM_025215.6(PUS1):c.929del (p.Pro310fs)

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