ClinVar Miner

Variants with conflicting interpretations "pathogenic" from UW Hindbrain Malformation Research Program, University of Washington and "uncertain significance" from any submitter

Minimum review status of the submission from UW Hindbrain Malformation Research Program, University of Washington: Collection method of the submission from UW Hindbrain Malformation Research Program, University of Washington:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_019892.6(INPP5E):c.1162G>T (p.Val388Leu) rs863225201 0.00003
NM_001352754.2(ARMC9):c.205G>A (p.Gly69Arg) rs750247691 0.00002
NM_001378615.1(CC2D2A):c.3596T>C (p.Ile1199Thr) rs760918829 0.00002
NM_001384732.1(CPLANE1):c.8140C>T (p.Arg2714Ter) rs147416429 0.00002
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013 0.00001
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val) rs773881370 0.00001
NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser) rs780882740 0.00001
NM_001308120.2(TOGARAM1):c.1102C>T (p.Arg368Trp) rs368448387
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_153704.6(TMEM67):c.245C>G (p.Pro82Arg) rs772437766

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