ClinVar Miner

List of variants reported as uncertain significance 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: 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_001006658.3(CR2):c.1931G>A (p.Cys644Tyr) rs149972318 0.00023
NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg) rs150202444 0.00021
NM_001710.6(CFB):c.1407C>G (p.Ile469Met) rs201798809 0.00019
NM_000552.5(VWF):c.2071C>A (p.Pro691Thr) rs199623726 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_000204.5(CFI):c.1709G>C (p.Ser570Thr) rs200973120 0.00008
NM_002473.6(MYH9):c.5081G>A (p.Arg1694His) rs538330756 0.00006
NM_002473.6(MYH9):c.5456T>G (p.Leu1819Arg) rs368440234 0.00006
NM_001081.4(CUBN):c.4964C>G (p.Pro1655Arg) rs532968940 0.00005
NM_000064.4(C3):c.769G>A (p.Ala257Thr) rs200918899 0.00004
NM_000186.4(CFH):c.2900G>A (p.Gly967Glu) rs375951438 0.00002
NM_000204.5(CFI):c.205A>G (p.Lys69Glu) rs771325547 0.00002
NM_000064.4(C3):c.322G>A (p.Val108Met) rs747923416 0.00001
NM_000204.5(CFI):c.209A>C (p.Asn70Thr) rs749553820 0.00001
NM_001710.6(CFB):c.118G>A (p.Glu40Lys) rs1271096223 0.00001
NM_001710.6(CFB):c.1217G>A (p.Arg406Gln) rs1057516209 0.00001
NM_001710.6(CFB):c.1861G>A (p.Glu621Lys) rs573842877 0.00001
NM_001710.6(CFB):c.427C>T (p.Arg143Cys) rs1242945827 0.00001
NM_002473.6(MYH9):c.1730T>C (p.Val577Ala) rs1479935984 0.00001
NM_002473.6(MYH9):c.5671G>A (p.Ala1891Thr) rs748946434 0.00001
NM_000186.4(CFH):c.1336+4A>G rs1573028051
NM_000186.4(CFH):c.1699A>G (p.Arg567Gly) rs757756991
NM_000186.4(CFH):c.2794A>C (p.Lys932Gln) rs1573079762
NM_000186.4(CFH):c.59-10T>G rs1573008794
NM_000204.5(CFI):c.1160C>T (p.Thr387Ile) rs1373768125
NM_000204.5(CFI):c.1355C>A (p.Ala452Asp) rs1579164519
NM_000204.5(CFI):c.184A>G (p.Lys62Glu) rs1393611407
NM_000204.5(CFI):c.850T>G (p.Cys284Gly) rs1483694585
NM_000361.3(THBD):c.1712C>T (p.Thr571Met) rs1166732867
NM_000518.5(HBB):c.-25T>C rs886039874
NM_000518.5(HBB):c.316-369G>A rs1589891886
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.7797C>G (p.Cys2599Trp) rs138758085
NM_002473.6(MYH9):c.4261G>A (p.Glu1421Lys) rs1569534914
NM_002473.6(MYH9):c.4552A>C (p.Lys1518Gln) rs1603482802
NM_002473.6(MYH9):c.4906G>A (p.Ala1636Thr) rs1603482785
NM_002473.6(MYH9):c.5275-7_5275-5del rs780656298
NM_002473.6(MYH9):c.658G>A (p.Ala220Thr) rs1556637683
NM_172351.3(CD46):c.101C>T (p.Ala34Val) rs1571578126

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