ClinVar Miner

Variants in gene F11 with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 27
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HGVS dbSNP gnomAD frequency
NM_000128.4(F11):c.809A>T (p.Lys270Ile) rs121965070 0.00055
NM_000128.4(F11):c.1613C>T (p.Pro538Leu) rs139695003 0.00010
NM_000128.4(F11):c.1288G>A (p.Ala430Thr) rs753909969 0.00006
NM_000128.4(F11):c.438C>A (p.Cys146Ter) rs121965066 0.00005
NM_000128.4(F11):c.400C>T (p.Gln134Ter) rs756908183 0.00004
NM_000128.4(F11):c.1107C>A (p.Tyr369Ter) rs773905328 0.00003
NM_000128.4(F11):c.1489C>T (p.Arg497Ter) rs375422404 0.00003
NM_000128.4(F11):c.325G>A (p.Ala109Thr) rs768474112 0.00002
NM_000128.4(F11):c.682C>T (p.Arg228Ter) rs752907087 0.00002
NM_000128.4(F11):c.976C>T (p.Arg326Cys) rs28934608 0.00002
NM_000128.4(F11):c.1186C>T (p.Arg396Cys) rs771896253 0.00001
NM_000128.4(F11):c.1247G>A (p.Cys416Tyr) rs779802284 0.00001
NM_000128.4(F11):c.1253G>T (p.Gly418Val) rs121965071 0.00001
NM_000128.4(F11):c.1432G>A (p.Gly478Arg) rs542967227 0.00001
NM_000128.4(F11):c.1556G>A (p.Trp519Ter) rs201007090 0.00001
NM_000128.4(F11):c.166T>C (p.Cys56Arg) rs121965069 0.00001
NM_000128.4(F11):c.595+3A>G rs933333847 0.00001
NM_000128.4(F11):c.67C>T (p.Gln23Ter) rs768409400 0.00001
NM_000128.4(F11):c.755+2T>C rs1220869989 0.00001
NM_000128.4(F11):c.1075del (p.Ile359fs) rs786204429
NM_000128.4(F11):c.1204C>T (p.Gln402Ter) rs1741002305
NM_000128.4(F11):c.1234C>T (p.Gln412Ter) rs538083600
NM_000128.4(F11):c.1313C>A (p.Ser438Ter) rs786204724
NM_000128.4(F11):c.1782C>A (p.Ser594Arg) rs28934609
NM_000128.4(F11):c.644_649del (p.Ile215_Asp216del) rs1459304265
NM_000128.4(F11):c.908del (p.Gly303fs) rs786204722
Single allele

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