ClinVar Miner

List of variants reported as likely pathogenic for hematologic disorder by Zotz-Klimas Genetics Lab, MVZ Zotz Klimas

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000128.4(F11):c.723C>G (p.Phe241Leu) rs281875265 0.00004
NM_030773.4(TUBB1):c.952C>T (p.Arg318Trp) rs121918555 0.00003
NM_000552.5(VWF):c.3944G>A (p.Arg1315His) rs61749396 0.00001
NM_000129.4(F13A1):c.669del (p.Arg224fs)
NM_000132.4(F8):c.6325C>T (p.Arg2109Cys)
NM_000298.6(PKLR):c.1076G>C (p.Arg359Pro)
NM_000313.4(PROS1):c.1459G>C (p.Gly487Arg)
NM_000552.5(VWF):c.4636del (p.Met1545_Val1546insTer) rs267607345
NM_000552.5(VWF):c.5281dup (p.Met1761fs)
NM_000552.5(VWF):c.6854del (p.Ser2285fs)
NM_001001548.3(CD36):c.161G>A (p.Trp54Ter)
NM_001355436.2(SPTB):c.4843-1G>C
NM_002473.6(MYH9):c.3244GAG[2] (p.Glu1084del)
NM_019616.4(F7):c.[179G>T;190_191delinsTT]
NM_021870.3(FGG):c.1067A>G (p.Asp356Gly)
NM_182916.3(TRNT1):c.498_501del (p.Phe167fs) rs754883449
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro) rs104894497

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