ClinVar Miner

List of variants studied for hematologic disorder by Breda Genetics srl

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005050.4(ABCD4):c.611T>C (p.Leu204Ser) rs538521064 0.00005
NM_000355.4(TCN2):c.700del (p.Gln234fs) rs2087597945
NM_006846.4(SPINK5):c.2891C>A (p.Ala964Glu) rs1754449328
NM_012452.3(TNFRSF13B):c.476A>T (p.Gln159Leu) rs2143642404

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