ClinVar Miner

List of variants in gene INTU studied for Short-rib thoracic dysplasia 20 with polydactyly; Orofaciodigital syndrome 17

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Gene type: Distinguish antisense genes from sense genes
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_015693.4(INTU):c.2527C>T (p.Arg843Cys)	rs778337257	0.00013
NM_015693.4(INTU):c.1450-9T>G	rs73847044
NM_015693.4(INTU):c.683-16G>C	rs56223823

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