ClinVar Miner

List of variants in gene MASP1 reported as likely benign for 3MC syndrome 1

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_139125.4(MASP1):c.1386G>A (p.Pro462=) rs35384947 0.01342
NM_139125.4(MASP1):c.893-14T>G rs188032187 0.00190
NM_001879.6(MASP1):c.1442-5C>G rs138989954 0.00178
NM_139125.4(MASP1):c.674A>G (p.Asn225Ser) rs145045341 0.00142
NM_139125.4(MASP1):c.1322G>A (p.Arg441His) rs141872329 0.00101
NM_139125.4(MASP1):c.1125C>T (p.His375=) rs34207306 0.00099
NM_139125.4(MASP1):c.1136C>T (p.Thr379Ile) rs146265553 0.00078
NM_139125.4(MASP1):c.1143T>C (p.Ser381=) rs141985299 0.00039
NM_139125.4(MASP1):c.1959C>T (p.Tyr653=) rs139958520 0.00031
NM_139125.4(MASP1):c.1932G>A (p.Thr644=) rs143503196 0.00021
NM_139125.4(MASP1):c.1869C>T (p.Pro623=) rs775726494 0.00016
NM_139125.4(MASP1):c.637C>T (p.Leu213=) rs28945069 0.00011
NM_139125.4(MASP1):c.1012-9T>C rs754743294 0.00009
NM_139125.4(MASP1):c.1304-10C>G rs775750936 0.00009
NM_139125.4(MASP1):c.1992C>T (p.Ser664=) rs200393551 0.00004
NM_139125.4(MASP1):c.1350C>T (p.Ile450=) rs143748671 0.00003
NM_139125.4(MASP1):c.1446G>T (p.Gly482=) rs768885799 0.00003
NM_139125.4(MASP1):c.1530A>C (p.Pro510=) rs200791230 0.00003
NM_139125.4(MASP1):c.1012-10C>A
NM_139125.4(MASP1):c.1228+12A>G
NM_139125.4(MASP1):c.1419G>C (p.Ser473=)
NM_139125.4(MASP1):c.1704C>T (p.His568=)
NM_139125.4(MASP1):c.2061G>A (p.Gly687=)
NM_139125.4(MASP1):c.2061G>C (p.Gly687=)
NM_139125.4(MASP1):c.2169G>A (p.Glu723=)
NM_139125.4(MASP1):c.267C>T (p.Thr89=)
NM_139125.4(MASP1):c.318G>A (p.Val106=) rs150600860
NM_139125.4(MASP1):c.415+19T>C
NM_139125.4(MASP1):c.444C>T (p.Asp148=)
NM_139125.4(MASP1):c.579G>A (p.Arg193=)
NM_139125.4(MASP1):c.745-18C>T
NM_139125.4(MASP1):c.745-27TC[9] rs745796040

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