List of variants in gene TRPS1 studied for Trichorhinophalangeal syndrome, type III

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter)	rs886040971
NM_014112.5(TRPS1):c.2700+29A>C	rs2293889
NM_014112.5(TRPS1):c.2732A>G (p.Asn911Ser)	rs1554617580
NM_014112.5(TRPS1):c.2740A>C (p.Thr914Pro)	rs121908433
NM_014112.5(TRPS1):c.2757_2758dup (p.Trp920fs)
NM_014112.5(TRPS1):c.2762G>A (p.Arg921Gln)	rs121908435
NM_014112.5(TRPS1):c.2795C>T (p.Ala932Val)	rs121908436
NM_014112.5(TRPS1):c.3160del (p.Ser1054fs)

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