ClinVar Miner

List of variants reported for Short-rib thoracic dysplasia 20 with polydactyly; Orofaciodigital syndrome 17 by Fulgent Genetics, Fulgent Genetics

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_015693.4(INTU):c.1450-9T>G	rs73847044
NM_015693.4(INTU):c.683-16G>C	rs56223823

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