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
NM_001080522.2(CC2D2A):c.2999A>T (p.Glu1000Val) rs773881370
NM_001080522.2(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001080522.2(CC2D2A):c.3596T>C (p.Ile1199Thr) rs760918829
NM_001308120.2(TOGARAM1):c.1102C>T (p.Arg368Trp)
NM_001352754.2(ARMC9):c.205G>A (p.Gly69Arg) rs750247691
NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser) rs780882740
NM_019892.6(INPP5E):c.1577C>T (p.Pro526Leu) rs746867724
NM_019892.6(INPP5E):c.1754G>A (p.Arg585His) rs752300607
NM_019892.6(INPP5E):c.907G>A (p.Val303Met) rs746212325
NM_019892.6(INPP5E):c.944C>T (p.Pro315Leu) rs754637179
NM_153704.6(TMEM67):c.245C>G (p.Pro82Arg) rs772437766

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