ClinVar Miner

List of variants in gene SNRNP200 reported as pathogenic by Invitae

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_014014.5(SNRNP200):c.1792C>T (p.Arg598Cys) rs367922991 0.00010
NM_014014.5(SNRNP200):c.3269G>A (p.Arg1090Gln) rs397514574 0.00001
NM_014014.5(SNRNP200):c.1645C>G (p.Gln549Glu) rs2104356633
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.2044C>T (p.Pro682Ser) rs2063893838
NM_014014.5(SNRNP200):c.2066A>G (p.Tyr689Cys) rs556400279
NM_014014.5(SNRNP200):c.2359G>A (p.Ala787Thr) rs2063883437
NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu) rs267607077

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