ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Gharavi Laboratory,Columbia University and "uncertain significance" 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: 17
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HGVS dbSNP
NM_000091.4(COL4A3):c.1096G>A (p.Gly366Arg) rs539765620
NM_000091.4(COL4A3):c.1201G>A (p.Gly401Arg) rs1559878824
NM_000091.4(COL4A3):c.1855G>A (p.Gly619Arg) rs773515249
NM_000091.4(COL4A3):c.190G>C (p.Gly64Arg) rs917643323
NM_000091.4(COL4A3):c.2810G>A (p.Gly937Glu) rs1559899600
NM_000091.4(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000092.4(COL4A4):c.1223G>A (p.Gly408Glu) rs1026613471
NM_000092.4(COL4A4):c.2092G>A (p.Gly698Arg) rs1241404192
NM_000092.4(COL4A4):c.5045G>A (p.Arg1682Gln) rs368404711
NM_000388.4(CASR):c.1189G>A (p.Gly397Arg) rs1064794291
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606
NM_001360.2(DHCR7):c.199G>A (p.Ala67Thr) rs143999854
NM_001360.2(DHCR7):c.91C>T (p.Arg31Cys) rs367585401
NM_003361.3(UMOD):c.317G>T (p.Cys106Phe) rs398123697
NM_004621.6(TRPC6):c.643C>T (p.Arg215Trp) rs768210838
NM_018848.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398
NM_033380.3(COL4A5):c.2965_2982del (p.Asp989_Gly994del) rs104886374

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