ClinVar Miner

List of variants in gene SPTA1 reported as pathogenic for anemia (disease)

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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NM_003126.2(SPTA1):c.5190_5310del rs754614154
NM_003126.4(SPTA1):c.121C>T (p.Arg41Trp) rs121918640
NM_003126.4(SPTA1):c.135G>T (p.Arg45Ser) rs121918637
NM_003126.4(SPTA1):c.137G>T (p.Gly46Val) rs121918638
NM_003126.4(SPTA1):c.1412A>C (p.Gln471Pro) rs121918635
NM_003126.4(SPTA1):c.145C>T (p.Leu49Phe) rs121918639
NM_003126.4(SPTA1):c.1850dup (p.Ser618fs) rs1553234309
NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu) rs7418956
NM_003126.4(SPTA1):c.2465-1G>A rs863223305
NM_003126.4(SPTA1):c.3291G>A (p.Trp1097Ter) rs1553231217
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup) rs757679761
NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro) rs121918643
NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro) rs121918634
NM_003126.4(SPTA1):c.781T>C (p.Ser261Pro) rs121918636
NM_003126.4(SPTA1):c.82C>A (p.Arg28Ser) rs121918642
NM_003126.4(SPTA1):c.82C>T (p.Arg28Cys) rs121918642
NM_003126.4(SPTA1):c.83G>A (p.Arg28His) rs121918641
NM_003126.4(SPTA1):c.83G>T (p.Arg28Leu) rs121918641
SPTA1, IVS30, C-T, -99

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