ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Gharavi Laboratory,Columbia University and "likely pathogenic" from any submitter

Minimum review status of the submission from Gharavi Laboratory,Columbia University: Collection method of the submission from Gharavi Laboratory,Columbia University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP
NM_000255.4(MMUT):c.912-1G>A rs1561957527
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del) rs778896252
NM_000334.4(SCN4A):c.1173del (p.Phe392fs) rs1235665641
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys) rs1057519101
NM_000441.2(SLC26A4):c.1708-1G>A rs759414956
NM_001009944.3(PKD1):c.3496G>A (p.Gly1166Ser) rs573566419
NM_018668.4(VPS33B):c.96+1G>T rs1567232168
NM_019892.6(INPP5E):c.1787G>C (p.Arg596Thr) rs765327224
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261

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