ClinVar Miner

List of variants reported as 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: 26
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HGVS dbSNP gnomAD frequency
NM_001081.4(CUBN):c.4459C>T (p.Arg1487Ter) rs145661597 0.00016
NM_001081.4(CUBN):c.9524C>A (p.Ser3175Ter) rs368697251 0.00008
NM_001710.6(CFB):c.1374G>A (p.Met458Ile) rs200837114 0.00004
NM_030943.4(AMN):c.208-2A>G rs386834170 0.00004
NM_000135.4(FANCA):c.2778+1G>A rs140180549 0.00002
NM_000312.4(PROC):c.1201G>A (p.Asp401Asn) rs142742242 0.00001
NM_000064.4(C3):c.3737_3738del (p.Asp1245_Phe1246insTer) rs1568212112
NM_000186.4(CFH):c.1126C>T (p.Gln376Ter) rs1573026975
NM_000186.4(CFH):c.1318_1327del (p.Pro440fs) rs1558162157
NM_000186.4(CFH):c.2535dup (p.Gln846fs) rs1573076111
NM_000186.4(CFH):c.2697T>A (p.Tyr899Ter) rs121913057
NM_000186.4(CFH):c.2950T>C (p.Cys984Arg) rs886039869
NM_000186.4(CFH):c.3134-2A>G rs1300996807
NM_000186.4(CFH):c.710_711del (p.Lys236_Cys237insTer) rs1553273733
NM_000312.4(PROC):c.340G>T (p.Gly114Cys) rs374476971
NM_000377.3(WAS):c.1423C>T (p.Gln475Ter) rs1602180058
NM_001081.4(CUBN):c.5600del (p.Phe1867fs) rs747417629
NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys) rs80338826
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_030943.4(AMN):c.742C>T (p.Gln248Ter) rs386834177
NM_172351.3(CD46):c.404del (p.Gly135fs) rs1571588257
NM_172351.3(CD46):c.542_543del (p.Val180_Phe181insTer) rs1057516191
NM_172351.3(CD46):c.604C>T (p.Leu202Phe) rs750324925
NM_172351.3(CD46):c.714_715del (p.Gln238fs) rs1571616755
NM_172351.3(CD46):c.776del (p.Gly259fs) rs886039868
NM_172351.3(CD46):c.828G>A (p.Trp276Ter) rs1571617647

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