ClinVar Miner

List of variants studied for anemia by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_001081.4(CUBN):c.6125-2A>G rs75386064 0.00226
NM_001081.4(CUBN):c.6225G>A (p.Ser2075=) rs75737363 0.00192
NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser) rs117620008 0.00133
NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg) rs150202444 0.00021
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter) rs143944436 0.00019
NM_001081.4(CUBN):c.4459C>T (p.Arg1487Ter) rs145661597 0.00016
NM_001081.4(CUBN):c.9922T>C (p.Trp3308Arg) rs752843169 0.00014
NM_001081.4(CUBN):c.9053A>C (p.Tyr3018Ser) rs370778353 0.00009
NM_001081.4(CUBN):c.9524C>A (p.Ser3175Ter) rs368697251 0.00008
NM_001081.4(CUBN):c.4964C>G (p.Pro1655Arg) rs532968940 0.00005
NM_030943.4(AMN):c.208-2A>G rs386834170 0.00004
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter) rs374417889 0.00003
NM_000135.4(FANCA):c.2778+1G>A rs140180549 0.00002
NM_000186.4(CFH):c.2900G>A (p.Gly967Glu) rs375951438 0.00002
NM_000037.4(ANK1):c.4051del (p.Asp1351fs) rs1586114714
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.1336+4A>G rs1573028051
NM_000186.4(CFH):c.1699A>G (p.Arg567Gly) rs757756991
NM_000186.4(CFH):c.2535dup (p.Gln846fs) rs1573076111
NM_000186.4(CFH):c.2697T>A (p.Tyr899Ter) rs121913057
NM_000186.4(CFH):c.2794A>C (p.Lys932Gln) rs1573079762
NM_000186.4(CFH):c.2950T>C (p.Cys984Arg) rs886039869
NM_000186.4(CFH):c.3134-2A>G rs1300996807
NM_000186.4(CFH):c.3542T>C (p.Leu1181Ser) rs1573087200
NM_000186.4(CFH):c.58G>A (p.Asp20Asn) rs1553270437
NM_000186.4(CFH):c.59-10T>G rs1573008794
NM_000186.4(CFH):c.710_711del (p.Lys236_Cys237insTer) rs1553273733
NM_000518.5(HBB):c.-25T>C rs886039874
NM_000518.5(HBB):c.316-369G>A rs1589891886
NM_001081.4(CUBN):c.3473G>A (p.Trp1158Ter) rs1564492988
NM_001081.4(CUBN):c.349C>A (p.Leu117Met) rs1588661287
NM_001081.4(CUBN):c.3929T>C (p.Ile1310Thr) rs1588604587
NM_001081.4(CUBN):c.489+2_489+4dup rs1588658746
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.5600del (p.Phe1867fs) rs747417629
NM_001081.4(CUBN):c.7534-1G>T rs1588639188
NM_001081.4(CUBN):c.7797C>G (p.Cys2599Trp) rs138758085
NM_001081.4(CUBN):c.9949C>T (p.Gln3317Ter) rs1564379463
NM_005142.3(CBLIF):c.661G>A (p.Gly221Arg) rs1590859406
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_030943.4(AMN):c.742C>T (p.Gln248Ter) rs386834177

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