ClinVar Miner

List of variants in gene MASP1 studied for multiple congenital anomalies/dysmorphic syndrome

Included ClinVar conditions (856):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 104
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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.1442-5C>G rs138989954 0.00178
NM_001879.6(MASP1):c.1528A>G (p.Ser510Gly) rs28945070 0.00176
NM_139125.4(MASP1):c.674A>G (p.Asn225Ser) rs145045341 0.00142
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.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.1091-11T>C rs201073458 0.00063
NM_001879.6(MASP1):c.1358G>A (p.Arg453His) rs150028177 0.00054
NM_139125.4(MASP1):c.1352T>C (p.Ile451Thr) rs200641208 0.00043
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.1507C>T (p.Arg503Cys) rs201025468 0.00031
NM_139125.4(MASP1):c.1959C>T (p.Tyr653=) rs139958520 0.00031
NM_139125.4(MASP1):c.1931C>T (p.Thr644Met) rs146714674 0.00029
NM_139125.4(MASP1):c.1012-17T>C rs201766436 0.00022
NM_139125.4(MASP1):c.1932G>A (p.Thr644=) rs143503196 0.00021
NM_139125.4(MASP1):c.1467G>A (p.Ala489=) rs149695036 0.00018
NM_139125.4(MASP1):c.1187C>T (p.Ser396Phe) rs199907557 0.00014
NM_139125.4(MASP1):c.1869C>T (p.Pro623=) rs775726494 0.00012
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.1216A>C (p.Asn406His) rs374775501 0.00006
NM_139125.4(MASP1):c.315G>C (p.Glu105Asp) rs776909379 0.00006
NM_139125.4(MASP1):c.1992C>T (p.Ser664=) rs200393551 0.00004
NM_139125.4(MASP1):c.1993G>A (p.Gly665Ser) rs756893343 0.00004
NM_139125.4(MASP1):c.491A>G (p.Tyr164Cys) rs535846193 0.00004
NM_139125.4(MASP1):c.722C>T (p.Pro241Leu) rs375399118 0.00004
NM_139125.4(MASP1):c.1350C>T (p.Ile450=) rs143748671 0.00003
NM_139125.4(MASP1):c.1530A>C (p.Pro510=) rs200791230 0.00003
NM_139125.4(MASP1):c.510C>T (p.Phe170=) rs553549384 0.00003
NM_139125.4(MASP1):c.1508G>A (p.Arg503His) rs560233325 0.00002
NM_139125.4(MASP1):c.1576C>T (p.Arg526Ter) rs377074720 0.00002
NM_001879.6(MASP1):c.1809+4A>G rs1712167142 0.00001
NM_139125.4(MASP1):c.1226C>G (p.Thr409Arg) rs1294798412 0.00001
NM_139125.4(MASP1):c.1446G>T (p.Gly482=) rs768885799 0.00001
NM_139125.4(MASP1):c.1774G>A (p.Gly592Ser) rs764178335 0.00001
NM_139125.4(MASP1):c.870G>A (p.Trp290Ter) rs763360042 0.00001
NC_000003.12:g.(?_187235664)_(187256880_?)del
NM_001879.6(MASP1):c.1498del (p.Asp500fs)
NM_001879.6(MASP1):c.1809+1G>A rs373254538
NM_001879.6(MASP1):c.1943G>T (p.Gly648Val)
NM_139125.4(MASP1):c.1012-10C>A
NM_139125.4(MASP1):c.1091-10_1091-8del
NM_139125.4(MASP1):c.1155C>T (p.Asn385=)
NM_139125.4(MASP1):c.1228+12A>G
NM_139125.4(MASP1):c.1419G>C (p.Ser473=)
NM_139125.4(MASP1):c.1489C>T (p.His497Tyr) rs387906752
NM_139125.4(MASP1):c.1492dup (p.Val498fs) rs1713182815
NM_139125.4(MASP1):c.1586C>T (p.Ser529Leu)
NM_139125.4(MASP1):c.1704C>T (p.His568=)
NM_139125.4(MASP1):c.1708A>G (p.Met570Val)
NM_139125.4(MASP1):c.1763G>A (p.Gly588Asp)
NM_139125.4(MASP1):c.1780G>A (p.Gly594Ser) rs2108513487
NM_139125.4(MASP1):c.1832G>A (p.Arg611Gln)
NM_139125.4(MASP1):c.1888T>C (p.Cys630Arg) rs387906753
NM_139125.4(MASP1):c.1910G>A (p.Arg637His) rs115022399
NM_139125.4(MASP1):c.1976C>A (p.Thr659Lys) rs757937866
NM_139125.4(MASP1):c.1997G>A (p.Gly666Glu) rs387906754
NM_139125.4(MASP1):c.2034G>A (p.Trp678Ter) rs1085307080
NM_139125.4(MASP1):c.2059G>A (p.Gly687Arg) rs533236263
NM_139125.4(MASP1):c.2061G>A (p.Gly687=)
NM_139125.4(MASP1):c.2061G>C (p.Gly687=)
NM_139125.4(MASP1):c.2076C>A (p.Cys692Ter)
NM_139125.4(MASP1):c.2169G>A (p.Glu723=)
NM_139125.4(MASP1):c.2183G>A (p.Arg728Gln) rs746844321
NM_139125.4(MASP1):c.267C>T (p.Thr89=)
NM_139125.4(MASP1):c.318G>A (p.Val106=) rs150600860
NM_139125.4(MASP1):c.322C>T (p.Leu108Phe) rs1476401872
NM_139125.4(MASP1):c.415+13A>C
NM_139125.4(MASP1):c.415+19T>C
NM_139125.4(MASP1):c.415+19_415+20del
NM_139125.4(MASP1):c.444C>T (p.Asp148=)
NM_139125.4(MASP1):c.518del (p.Ile173fs) rs1579537069
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
NM_139125.4(MASP1):c.753T>G (p.Val251=)
NM_139125.4(MASP1):c.773C>T (p.Pro258Leu)
NM_139125.4(MASP1):c.812dup (p.Ser272fs) rs1560255926
NM_139125.4(MASP1):c.913C>T (p.Gln305Ter) rs1714622835
NM_139125.4(MASP1):c.953A>C (p.Lys318Thr)
NM_139125.4(MASP1):c.992_993del (p.Thr331fs) rs749073173

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