List of variants in gene AGPS, LOC129935172 studied for Rhizomelic chondrodysplasia punctata type 3

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_003659.4(AGPS):c.147C>T (p.Pro49=)	rs34442536	0.01033
NM_003659.4(AGPS):c.64G>A (p.Ala22Thr)	rs759572190	0.00069
NM_003659.4(AGPS):c.54C>T (p.Ser18=)	rs774742400	0.00057
NM_003659.4(AGPS):c.148C>T (p.Arg50Trp)	rs778087162	0.00034
NM_003659.4(AGPS):c.65C>G (p.Ala22Gly)	rs767584572	0.00029
NM_003659.4(AGPS):c.157C>T (p.Leu53=)	rs77810072	0.00011
NM_003659.4(AGPS):c.35G>A (p.Gly12Asp)	rs557931141	0.00005
NM_003659.4(AGPS):c.-14A>G	rs752946440	0.00001
NM_003659.4(AGPS):c.108G>A (p.Arg36=)	rs886055163	0.00001
NM_003659.4(AGPS):c.141C>A (p.Gly47=)	rs1345248171	0.00001
NM_003659.4(AGPS):c.14C>T (p.Ala5Val)	rs1233318758	0.00001
NM_003659.4(AGPS):c.83A>T (p.Asp28Val)	rs764286061	0.00001
NM_003659.4(AGPS):c.72C>T (p.Asp24=)	rs923081006

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