ClinVar Miner

Variants with conflicting interpretations "affects" from Pediatrics, All India Institute of Medical Sciences, New Delhi and "likely pathogenic" from any submitter

Minimum review status of the submission from Pediatrics, All India Institute of Medical Sciences, New Delhi: Collection method of the submission from Pediatrics, All India Institute of Medical Sciences, New Delhi:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.1181-1G>A rs864622777
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.1506G>T (p.Trp502Cys) rs2124648374
NM_000202.8(IDS):c.182C>T (p.Ser61Phe) rs2124065955
NM_000202.8(IDS):c.253G>A (p.Ala85Thr) rs113993949
NM_000202.8(IDS):c.263G>A (p.Arg88His) rs2089497431
NM_000202.8(IDS):c.692C>T (p.Pro231Leu) rs2089450305
NM_000202.8(IDS):c.801G>T (p.Trp267Cys) rs2124041510
NM_000202.8(IDS):c.806A>T (p.Asp269Val) rs1085308006

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