ClinVar Miner

List of variants reported as likely pathogenic for hematologic disorder by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter) rs151093663 0.00065
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter) rs143944436 0.00019
NM_000204.5(CFI):c.310G>A (p.Gly104Arg) rs200419722 0.00006
NM_000552.5(VWF):c.6553C>T (p.Arg2185Trp) rs569962285 0.00003
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter) rs374417889 0.00003
NM_000204.5(CFI):c.1165C>T (p.Arg389Cys) rs1292929833 0.00001
NM_000037.4(ANK1):c.4051del (p.Asp1351fs) rs1586114714
NM_000064.4(C3):c.2531A>G (p.Gln844Arg) rs1599510478
NM_000064.4(C3):c.3908G>A (p.Arg1303His) rs775015499
NM_000186.4(CFH):c.3542T>C (p.Leu1181Ser) rs1573087200
NM_000186.4(CFH):c.58G>A (p.Asp20Asn) rs1553270437
NM_000204.5(CFI):c.1118G>C (p.Cys373Ser) rs1579173999
NM_000517.6(HBA2):c.268_280del (p.His90fs) rs1596570041
NM_000821.7(GGCX):c.1987C>T (p.Gln663Ter) rs1691898752
NM_000821.7(GGCX):c.773G>A (p.Gly258Asp) rs1692107154
NM_001081.4(CUBN):c.3473G>A (p.Trp1158Ter) rs1564492988
NM_001081.4(CUBN):c.4921del (p.Tyr1641fs) rs1564443979
NM_001081.4(CUBN):c.4973del (p.Asn1658fs) rs1588511533
NM_001081.4(CUBN):c.5511dup (p.Gly1838fs) rs1168074679
NM_001081.4(CUBN):c.5549-2A>C rs1564435513
NM_001081.4(CUBN):c.7534-1G>T rs1588639188
NM_001081.4(CUBN):c.9949C>T (p.Gln3317Ter) rs1564379463
NM_001164277.2(SLC37A4):c.838G>C (p.Ala280Pro) rs1555190969
NM_005142.3(CBLIF):c.661G>A (p.Gly221Arg) rs1590859406
NM_139027.6(ADAMTS13):c.1585-1G>C rs1554789680
NM_139027.6(ADAMTS13):c.3937_4053del (p.Thr1313_Thr1351del) rs1554797078
NM_172351.3(CD46):c.685C>T (p.Arg229Ter) rs1553251787

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