ClinVar Miner

List of variants studied for short-rib thoracic dysplasia 16 with or without polydactyly by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_016004.5(IFT52):c.157G>A (p.Val53Met) rs137979762 0.00043
NM_016004.5(IFT52):c.1189C>T (p.Pro397Ser) rs764053825 0.00004

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