ClinVar Miner

List of variants in gene SIL1 reported as uncertain significance by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_022464.5(SIL1):c.573G>A (p.Lys191=) rs148927511 0.00052
NM_022464.5(SIL1):c.984C>T (p.Leu328=) rs368666457 0.00029
NM_022464.5(SIL1):c.1167C>T (p.Pro389=) rs199890503 0.00028
NM_022464.5(SIL1):c.103C>G (p.Leu35Val) rs759591537 0.00011
NM_022464.5(SIL1):c.849C>T (p.Leu283=) rs372816951 0.00010
NM_022464.5(SIL1):c.1029+7G>A rs371041584 0.00008
NM_022464.5(SIL1):c.994G>A (p.Val332Met) rs202053975 0.00004
NM_022464.5(SIL1):c.1282G>C (p.Glu428Gln) rs761095369 0.00003
NM_022464.5(SIL1):c.1115G>A (p.Gly372Asp) rs727504153 0.00001
NM_022464.5(SIL1):c.1007T>G (p.Leu336Arg) rs794727978
NM_022464.5(SIL1):c.1215G>T (p.Leu405=) rs794727004
NM_022464.5(SIL1):c.1255G>A (p.Gly419Ser) rs398124389
NM_022464.5(SIL1):c.1A>G (p.Met1Val) rs573588795
NM_022464.5(SIL1):c.2T>C (p.Met1Thr) rs886044574
NM_022464.5(SIL1):c.539C>T (p.Thr180Ile) rs767252723
NM_022464.5(SIL1):c.692T>A (p.Val231Glu) rs727504154
NM_022464.5(SIL1):c.879G>C (p.Leu293=) rs1554122161

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