ClinVar Miner

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

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_139125.4(MASP1):c.1374T>C (p.Pro458=) rs710452 0.95860
NM_139125.4(MASP1):c.1851G>A (p.Leu617=) rs850312 0.25342
NM_139125.4(MASP1):c.1335C>T (p.Ser445=) rs3774268 0.15314
NM_139125.4(MASP1):c.1727G>T (p.Arg576Met) rs72549154 0.06887
NM_001879.6(MASP1):c.1703T>C (p.Val568Ala) rs13322090 0.01525
NM_139125.4(MASP1):c.1386G>A (p.Pro462=) rs35384947 0.01342
NM_139125.4(MASP1):c.1277G>A (p.Gly426Glu) rs28945068 0.01228
NM_139125.4(MASP1):c.547+14A>G rs72549251 0.01000
NM_139125.4(MASP1):c.417T>C (p.Asp139=) rs72549252 0.00909
NM_139125.4(MASP1):c.1824T>C (p.Ser608=) rs7652842 0.00839
NM_139125.4(MASP1):c.1090+2877G>A rs113938200 0.00638
NM_139125.4(MASP1):c.1746G>A (p.Pro582=) rs3821805 0.00442
NM_139125.4(MASP1):c.1062G>A (p.Thr354=) rs116763673 0.00431
NM_139125.4(MASP1):c.238-9A>G rs72549171 0.00387
NM_139125.4(MASP1):c.1552G>A (p.Val518Ile) rs73068950 0.00329
NM_139125.4(MASP1):c.1521G>A (p.Thr507=) rs139497497 0.00216
NM_139125.4(MASP1):c.893-14T>G rs188032187 0.00190
NM_001879.6(MASP1):c.1528A>G (p.Ser510Gly) rs28945070 0.00176
NM_139125.4(MASP1):c.863G>A (p.Arg288Gln) rs116001173 0.00116
NM_139125.4(MASP1):c.501C>G (p.Ser167=) rs16861801 0.00106
NM_139125.4(MASP1):c.1091-11T>C rs201073458 0.00063
NM_139125.4(MASP1):c.1507C>T (p.Arg503Cys) rs201025468 0.00031
NM_139125.4(MASP1):c.1012-17T>C rs201766436 0.00022
NM_139125.4(MASP1):c.1467G>A (p.Ala489=) rs149695036 0.00018
NM_139125.4(MASP1):c.510C>T (p.Phe170=) rs553549384 0.00003
NM_139125.4(MASP1):c.1155C>T (p.Asn385=)
NM_139125.4(MASP1):c.415+13A>C
NM_139125.4(MASP1):c.753T>G (p.Val251=)

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