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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_015693.4(INTU):c.813G>A (p.Thr271=)	rs4833380	0.60215
NM_015693.4(INTU):c.471A>G (p.Arg157=)	rs3749507	0.55961
NM_015693.4(INTU):c.1499A>C (p.Glu500Ala)	rs1360128571	0.00003
NM_015693.4(INTU):c.826C>T (p.Gln276Ter)	rs373900644	0.00003
NM_015693.4(INTU):c.1063G>T (p.Glu355Ter)	rs1037828930

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