ClinVar Miner

List of variants in gene MASP1 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_139125.4(MASP1):c.1521G>A (p.Thr507=) rs139497497 0.00216
NM_139125.4(MASP1):c.501C>G (p.Ser167=) rs16861801 0.00106
NM_139125.4(MASP1):c.1125C>T (p.His375=) rs34207306 0.00099
NM_139125.4(MASP1):c.1520C>T (p.Thr507Met) rs200778904 0.00043
NM_139125.4(MASP1):c.1143T>C (p.Ser381=) rs141985299 0.00039
NM_139125.4(MASP1):c.910C>A (p.Leu304Ile) rs145057248 0.00035
NM_139125.4(MASP1):c.731A>G (p.Tyr244Cys) rs28945071 0.00034
NM_139125.4(MASP1):c.315G>C (p.Glu105Asp) rs776909379 0.00006
NM_139125.4(MASP1):c.904C>T (p.Pro302Ser) rs147568338 0.00006
NM_139125.4(MASP1):c.1550C>T (p.Thr517Ile) rs1000455442 0.00001
NM_139125.4(MASP1):c.1773C>T (p.Ala591=) rs753546269
NM_139125.4(MASP1):c.683T>C (p.Phe228Ser) rs950180277

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