ClinVar Miner

List of variants reported as likely pathogenic for hematologic disorder by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_001001548.3(CD36):c.1150del (p.Ala384fs) rs551607784 0.00157
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys) rs61750077 0.00010
NM_000129.4(F13A1):c.1352_1353del (p.His451fs) rs1561645895
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_001001548.3(CD36):c.1416_*1del (p.Lys472fs) rs771061715
NM_002017.5(FLI1):c.852G>T (p.Trp284Cys) rs1942909159
NM_138477.4(CDAN1):c.2062C>T (p.Arg688Trp)
NM_138477.4(CDAN1):c.3290dup (p.Gly1098fs)
NM_172351.3(CD46):c.857-1G>A

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