List of variants in gene combination IFT172, LOC126806173 reported as benign for short rib dysplasia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_015662.3(IFT172):c.3915T>A (p.Ser1305=)	rs56076827	0.37673
NM_015662.3(IFT172):c.3610G>C (p.Val1204Leu)	rs7580439	0.00319
NM_015662.3(IFT172):c.3951+14G>T	rs376690357	0.00026
NM_015662.3(IFT172):c.3711+3G>A	rs202055593	0.00024
NM_015662.3(IFT172):c.3594T>C (p.Ser1198=)	rs775374622	0.00023

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