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: 25
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HGVS dbSNP
NM_000091.4(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181
NM_000091.4(COL4A3):c.3499G>A (p.Gly1167Arg) rs267606745
NM_000091.4(COL4A3):c.3546_3548dup (p.Gly1183_Asn1184insGly) rs1175052474
NM_000091.4(COL4A3):c.898G>A (p.Gly300Arg)
NM_000267.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_000296.3(PKD1):c.8218G>T (p.Gly2740Ter) rs1555451368
NM_000339.2(SLC12A3):c.2191G>A (p.Gly731Arg)
NM_000339.2(SLC12A3):c.2891G>A (p.Arg964Gln) rs202114767
NM_000495.4(COL4A5):c.1276G>A (p.Gly426Arg) rs104886111
NM_000495.4(COL4A5):c.1607G>A (p.Gly536Asp) rs104886125
NM_000495.4(COL4A5):c.2332G>A (p.Gly778Ser) rs104886174
NM_000495.4(COL4A5):c.2804G>A (p.Gly935Asp) rs104886195
NM_000495.4(COL4A5):c.2959_2976del18 (p.Asp989_Gly994del) rs104886374
NM_000495.4(COL4A5):c.3685G>A (p.Gly1229Ser)
NM_001009944.2(PKD1):c.7327G>T (p.Gly2443Ter)
NM_001177317.1(SLC34A3):c.575C>T (p.Ser192Leu) rs199690076
NM_003001.3(SDHC):c.405+1G>T rs587776653
NM_004380.2(CREBBP):c.5837delC (p.Pro1946Hisfs) rs587783507
NM_005912.2(MC4R):c.466C>T (p.Gln156Ter) rs369841551
NM_018848.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398
NM_022489.3(INF2):c.530G>A (p.Arg177His)
NM_033380.2(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_134425.2(SLC26A1):c.554C>T (p.Thr185Met) rs139024319
NM_138694.3(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_153240.4(NPHP3):c.2694-2_2694-1delAG rs751527253

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