ClinVar Miner

List of variants reported as uncertain significance for coagulation protein disease by Zotz-Klimas Genetics Lab, MVZ Zotz Klimas

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met) rs61751302 0.00352
NM_000552.5(VWF):c.6859C>T (p.Arg2287Trp) rs61750625 0.00217
NM_000130.5(F5):c.2222A>G (p.Asn741Ser) rs144979314 0.00140
NM_000552.5(VWF):c.974G>T (p.Cys325Phe) rs11837584 0.00111
NM_000133.4(F9):c.391+4A>G rs749754992 0.00003
NM_000128.4(F11):c.1220C>A (p.Thr407Lys)
NM_000128.4(F11):c.1634G>A (p.Cys545Tyr)
NM_000128.4(F11):c.691A>C (p.Thr231Pro)
NM_000128.4(F11):c.977G>A (p.Arg326His) rs1554082932
NM_000129.4(F13A1):c.1430A>G (p.Asp477Gly)
NM_000129.4(F13A1):c.601G>A (p.Glu201Lys)
NM_000132.4(F8):c.5132A>C (p.Gln1711Pro)
NM_000552.5(VWF):c.1984G>A (p.Gly662Arg)
NM_000552.5(VWF):c.3163A>G (p.Met1055Val)
NM_000552.5(VWF):c.3749C>G (p.Ala1250Gly)
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro) rs149834874
NM_001994.3(F13B):c.1520GAG[1] (p.Gly508del)
NM_001994.3(F13B):c.86A>T (p.His29Leu)
NM_019616.4(F7):c.-48C>A rs549591993
NM_019616.4(F7):c.1145G>A (p.Ser382Asn)
NM_019616.4(F7):c.445T>C (p.Ser149Pro)

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