ClinVar Miner

List of variants reported as pathogenic for 3MC syndrome

Included ClinVar conditions (4):
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ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
NM_000112.4(SLC26A2):c.-26+2T>C rs386833492 0.00055
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919 0.00012
NM_006438.5(COLEC10):c.528C>G (p.Cys176Trp) rs773764995 0.00002
NM_006438.5(COLEC10):c.25C>T (p.Arg9Ter) rs149010496 0.00001
NM_024027.5(COLEC11):c.610G>A (p.Gly204Ser) rs387907076 0.00001
NM_139125.4(MASP1):c.870G>A (p.Trp290Ter) rs763360042 0.00001
COLEC11, EX1-3DEL
NC_000002.11:g.(3660973_3685122)_(3692235_?)del
NC_000003.11:g.(?_186256465)_(186980528_?)del
NC_000003.11:g.(?_186256465)_(187009440_?)del
NC_000003.12:g.(?_187235664)_(187256880_?)del
NM_006438.5(COLEC10):c.128_129del (p.Thr43fs) rs749987061
NM_006438.5(COLEC10):c.228del (p.Gly77fs) rs1060505022
NM_017780.4(CHD7):c.5405G>A (p.Gly1802Asp) rs1805405695
NM_024027.5(COLEC11):c.309del (p.Gly104fs) rs2147963510
NM_024027.5(COLEC11):c.45del (p.Phe16fs) rs1572389284
NM_024027.5(COLEC11):c.505T>C (p.Ser169Pro) rs387907075
NM_024027.5(COLEC11):c.648_650del (p.Ser217del) rs2147975970
NM_139125.4(MASP1):c.1489C>T (p.His497Tyr) rs387906752
NM_139125.4(MASP1):c.1888T>C (p.Cys630Arg) rs387906753
NM_139125.4(MASP1):c.1997G>A (p.Gly666Glu) rs387906754
NM_139125.4(MASP1):c.2059G>A (p.Gly687Arg) rs533236263
NM_139125.4(MASP1):c.518del (p.Ile173fs) rs1579537069
NM_139125.4(MASP1):c.812dup (p.Ser272fs) rs1560255926
NM_139125.4(MASP1):c.913C>T (p.Gln305Ter) rs1714622835

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