List of variants in gene PUF60 studied for Inborn genetic diseases

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_078480.3(PUF60):c.1226C>A (p.Thr409Lys)
NM_078480.3(PUF60):c.1289G>T (p.Arg430Leu)
NM_078480.3(PUF60):c.1489ATC[1] (p.Ile498del)	rs1064794916
NM_078480.3(PUF60):c.1565C>T (p.Ala522Val)
NM_078480.3(PUF60):c.297+6C>T
NM_078480.3(PUF60):c.376del (p.Ala126fs)	rs1554643598
NM_078480.3(PUF60):c.449_457del (p.Ala150_Phe152del)	rs1131692232
NM_078480.3(PUF60):c.478_479del (p.Met160fs)	rs1554643473
NM_078480.3(PUF60):c.496del (p.Thr166fs)	rs1554643463
NM_078480.3(PUF60):c.510+1G>T	rs1816618311
NM_078480.3(PUF60):c.533_535del (p.Glu178del)	rs1816598426
NM_078480.3(PUF60):c.541G>A (p.Glu181Lys)	rs1085307135
NM_078480.3(PUF60):c.608dup (p.Arg204fs)	rs1816568888
NM_078480.3(PUF60):c.80T>C (p.Val27Ala)

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