ClinVar Miner

List of variants studied for central nervous system malformation by Kids Research, The Children's Hospital at Westmead

Included ClinVar conditions (164):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_020320.5(RARS2):c.1564G>A (p.Val522Ile) rs201386427 0.00006
NM_020320.5(RARS2):c.5C>T (p.Ala2Val) rs760114539 0.00004
NM_001135146.2(SLC39A8):c.338G>C (p.Cys113Ser) rs1444255127

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