List of variants in gene POMGNT1 studied for inborn disorder of amino acid metabolism

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_017739.4(POMGNT1):c.235+33T>G	rs41309197	0.04222
NM_017739.4(POMGNT1):c.269G>A (p.Arg90His)	rs139701867	0.00021
NM_017739.4(POMGNT1):c.319C>A (p.Arg107Ser)	rs375420073	0.00003
NM_017739.4(POMGNT1):c.107G>A (p.Arg36Gln)	rs768700187	0.00001
NM_017739.4(POMGNT1):c.187C>T (p.Arg63Ter)	rs193919337	0.00001
NM_017739.4(POMGNT1):c.236-1G>T	rs1057516477	0.00001
NM_017739.4(POMGNT1):c.188G>C (p.Arg63Pro)	rs141421141
NM_017739.4(POMGNT1):c.226C>A (p.Gln76Lys)	rs972657462
NM_017739.4(POMGNT1):c.233_234del (p.Asp77_Tyr78insTer)	rs1553164129
NM_017739.4(POMGNT1):c.296T>C (p.Leu99Pro)

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