ClinVar Miner

List of variants studied for anemia by Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_032444.4(SLX4):c.1637A>G (p.Tyr546Cys) rs150547487 0.00416
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu) rs139287784 0.00049
NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys) rs587778321 0.00006
NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro) rs121918634 0.00006
NM_001142864.4(PIEZO1):c.4850C>T (p.Thr1617Met) rs906425217 0.00005
NM_000175.5(GPI):c.880G>A (p.Glu294Lys) rs560277140 0.00001
NM_000518.5(HBB):c.92+5G>C rs33915217 0.00001
NM_000136.3(FANCC):c.165+1G>T rs794726668
NM_001374504.1(TMPRSS6):c.1842-31CCCCA[2] rs60484081

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