ClinVar Miner

List of variants studied for hematologic disorder by Suma Genomics

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_032383.5(HPS3):c.392C>T (p.Pro131Leu) rs577273287 0.00010
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_000365.6(TPI1):c.737A>G (p.Asn246Ser) rs781891192 0.00001
NM_000398.7(CYB5R3):c.708G>A (p.Trp236Ter) rs763259379 0.00001
NM_000518.5(HBB):c.92+5G>C rs33915217 0.00001
NM_000037.4(ANK1):c.1519dup (p.Leu507fs) rs397514029
NM_000061.3(BTK):c.1834C>T (p.Gln612Ter)
NM_000061.3(BTK):c.991dup (p.Ile331fs) rs2147429948
NM_000129.4(F13A1):c.691T>A (p.Phe231Ile)
NM_000222.3(KIT):c.590C>T (p.Ser197Leu) rs2109674601
NM_000504.4(F10):c.1216G>A (p.Gly406Ser) rs376163818
NM_000546.6(TP53):c.72dup (p.Leu25fs) rs2151047224
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn) rs80338831
NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter) rs80338835
NM_004629.2(FANCG):c.619del (p.Leu207fs)
NM_005373.3(MPL):c.1670C>A (p.Ser557Ter) rs2153920030
NM_005373.3(MPL):c.397C>T (p.Pro133Ser)
NM_015506.3(MMACHC):c.187del (p.Leu63fs) rs1343936481
NM_182922.4(HEATR3):c.1253T>A (p.Val418Asp)
NM_182922.4(HEATR3):c.1397C>T (p.Ala466Val)

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