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: 30
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HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606 0.00102
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr) rs143999854 0.00093
NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro) rs147200024 0.00048
NM_022042.4(SLC26A1):c.554C>T (p.Thr185Met) rs139024319 0.00016
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln) rs368404711 0.00010
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser) rs775057827 0.00006
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398 0.00006
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg) rs539765620 0.00005
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser) rs184730597 0.00004
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn) rs1315721381 0.00002
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser) rs778034451 0.00001
NM_000091.5(COL4A3):c.352G>A (p.Gly118Arg) rs1293137291 0.00001
NM_000388.4(CASR):c.1189G>A (p.Gly397Arg) rs1064794291 0.00001
NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys) rs371302153 0.00001
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe) rs398123697 0.00001
NM_003361.4(UMOD):c.326T>A (p.Val109Glu) rs780462125 0.00001
NM_004621.6(TRPC6):c.643C>T (p.Arg215Trp) rs768210838 0.00001
NM_016341.4(PLCE1):c.2960A>G (p.His987Arg) rs762245091 0.00001
NM_153240.5(NPHP3):c.3287T>C (p.Leu1096Pro) rs777276873 0.00001
NM_000091.5(COL4A3):c.1201G>A (p.Gly401Arg) rs1559878824
NM_000091.5(COL4A3):c.190G>C (p.Gly64Arg) rs917643323
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000091.5(COL4A3):c.3592G>A (p.Gly1198Ser) rs920061910
NM_001009944.3(PKD1):c.1261C>T (p.Arg421Cys) rs1567216536
NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys) rs367585401
NM_003361.4(UMOD):c.197T>C (p.Leu66Pro) rs1567311288
NM_003361.4(UMOD):c.628G>A (p.Gly210Ser) rs1567309965
NM_006005.3(WFS1):c.1046TCT[1] (p.Phe350del) rs1560418164
NM_017415.3(KLHL3):c.1079G>A (p.Arg360Gln) rs1561586322

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