ClinVar Miner

List of variants studied for Meckel syndrome by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln) rs187003641 0.00142
NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val) rs372190684 0.00014
NM_015681.6(B9D1):c.341+2T>C rs143149764 0.00009
NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter) rs377177061 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_001077418.3(TMEM231):c.664+4A>G rs760426025 0.00005
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180 0.00004
NM_001077418.3(TMEM231):c.438+1G>A rs1415483600 0.00003
NM_001378615.1(CC2D2A):c.4407C>G (p.Ser1469Arg) rs587779732 0.00003
NM_024809.5(TCTN2):c.703del (p.Leu235fs) rs760830696 0.00002
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286 0.00002
NM_153704.6(TMEM67):c.748G>A (p.Gly250Arg) rs587779736 0.00002
NM_001378615.1(CC2D2A):c.4384T>C (p.Trp1462Arg) rs368720062 0.00001
NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter) rs386833763 0.00001
NM_017777.4(MKS1):c.110A>G (p.Asn37Ser) rs587779734 0.00001
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter) rs797045706 0.00001
NM_001378615.1(CC2D2A):c.1339del (p.Ala447fs) rs386833745
NM_001378615.1(CC2D2A):c.4179+1del rs386833760
NM_017777.4(MKS1):c.1408-1dup rs762668200
NM_024809.5(TCTN2):c.134dup (p.Val46fs) rs797046040
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs) rs386834148
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs) rs62640570
NM_025114.4(CEP290):c.4621del (p.Thr1541fs) rs587779733
NM_025114.4(CEP290):c.654T>G (p.Tyr218Ter) rs863225185

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