ClinVar Miner

List of variants reported as uncertain significance for 3MC syndrome by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
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.910C>A (p.Leu304Ile) rs145057248 0.00035
NM_139125.4(MASP1):c.731A>G (p.Tyr244Cys) rs28945071 0.00034
NM_139125.4(MASP1):c.1931C>T (p.Thr644Met) rs146714674 0.00029
NM_139125.4(MASP1):c.1187C>T (p.Ser396Phe) rs199907557 0.00014
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.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.1508G>A (p.Arg503His) rs560233325 0.00002
NM_139125.4(MASP1):c.1226C>G (p.Thr409Arg) rs1294798412 0.00001
NM_139125.4(MASP1):c.49G>T (p.Ala17Ser) rs746649361 0.00001
NC_000003.11:g.(?_186256485)_(187009420_?)dup
NM_139125.4(MASP1):c.1091-10_1091-8del
NM_139125.4(MASP1):c.125G>A (p.Ser42Asn) rs1717812573
NM_139125.4(MASP1):c.1586C>T (p.Ser529Leu)
NM_139125.4(MASP1):c.1832G>A (p.Arg611Gln)
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.2076C>A (p.Cys692Ter)
NM_139125.4(MASP1):c.322C>T (p.Leu108Phe) rs1476401872
NM_139125.4(MASP1):c.953A>C (p.Lys318Thr)

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