List of variants in gene SNRNP200 reported as pathogenic for inborn disorder of amino acid metabolism

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_014014.5(SNRNP200):c.1462C>T (p.Leu488Phe)	rs771467567
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys)	rs959069360
NM_014014.5(SNRNP200):c.2042G>A (p.Arg681His)	rs527236113
NM_014014.5(SNRNP200):c.2047G>T (p.Val683Leu)	rs527236114
NM_014014.5(SNRNP200):c.2359G>A (p.Ala787Thr)	rs2063883437
NM_014014.5(SNRNP200):c.2653C>G (p.Gln885Glu)	rs397514575
NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu)	rs267607077
NM_014014.5(SNRNP200):c.3269G>T (p.Arg1090Leu)	rs397514574
NM_014014.5(SNRNP200):c.3859C>T (p.Arg1287Trp)	rs1004264460
NM_014014.5(SNRNP200):c.5654A>G (p.Asn1885Ser)	rs1295558388
NM_014014.5(SNRNP200):c.583A>G (p.Ile195Val)	rs1574001405

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