ClinVar Miner

List of variants reported by GOSgene,University College London Great Ormond Street Institute of Child Health

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Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_000335.4(SCN5A):c.4853del (p.Pro1618fs)
NM_001256071.3(RNF213):c.12553A>G (p.Lys4185Glu) rs1568149971
NM_001256071.3(RNF213):c.12562G>A (p.Ala4188Thr) rs1568149984

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