ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Gharavi Laboratory,Columbia University and "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: 16
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HGVS dbSNP
NM_000091.4(COL4A3):c.1354G>A (p.Gly452Arg) rs772958162
NM_000091.4(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181
NM_000091.4(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000091.4(COL4A3):c.898G>A (p.Gly300Arg) rs772708743
NM_001009944.3(PKD1):c.8218G>T (p.Gly2740Ter) rs1555451368
NM_001126108.2(SLC12A3):c.1844C>T (p.Ser615Leu) rs779160677
NM_001126108.2(SLC12A3):c.2191G>A (p.Gly731Arg) rs752101663
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln) rs202114767
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu) rs199690076
NM_005912.3(MC4R):c.466C>T (p.Gln156Ter) rs369841551
NM_018848.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg) rs104886111
NM_033380.3(COL4A5):c.1607G>A (p.Gly536Asp) rs104886125
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253

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