List of variants in gene POMGNT1 reported by Counsyl

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile)	rs150576537	0.00250
NM_017739.4(POMGNT1):c.236-1G>T	rs1057516477	0.00001
NM_017739.4(POMGNT1):c.121-2A>G	rs1057516871
NM_017739.4(POMGNT1):c.185_186insA (p.Arg63fs)	rs1057517153
NM_017739.4(POMGNT1):c.233_234del (p.Asp77_Tyr78insTer)	rs1553164129
NM_017739.4(POMGNT1):c.354+1G>A	rs1057517449
NM_017739.4(POMGNT1):c.60_63delinsGTGA (p.Ser20_Trp21delinsArgTer)	rs1057516478

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