List of variants reported as pathogenic by Genetics and Genomics Program, Sidra Medicine

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_032588.4(TRIM63):c.390C>G (p.Ile130Met)	rs377334933	0.00003
NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter)	rs121909742	0.00002
NM_000256.3(MYBPC3):c.2526C>G (p.Tyr842Ter)	rs373792537
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter)	rs397515992
NM_001010874.5(TECRL):c.296G>A (p.Trp99Ter)
NM_001267550.2(TTN):c.72856G>T (p.Gly24286Ter)	rs1198682781

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