ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India and "uncertain significance" from any submitter

Minimum review status of the submission from Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India: Collection method of the submission from Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_144596.4(TTC8):c.489G>A (p.Thr163=) rs119103286 0.00004
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459 0.00003
NM_000124.4(ERCC6):c.4063-1G>C rs766980240 0.00002
NM_000512.5(GALNS):c.986A>C (p.His329Pro) rs760892654 0.00002
NM_000294.3(PHKG2):c.431T>C (p.Leu144Pro) rs1567261889 0.00001
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237 0.00001
NM_000052.7(ATP7A):c.4085C>T (p.Ala1362Val) rs2149112273
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala) rs1566462533
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) rs121912751
NM_000512.5(GALNS):c.95A>C (p.Asn32Thr) rs773933657
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627

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