ClinVar Miner

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

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Total variants: 12
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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_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter) rs377177061 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180 0.00004
NM_001378615.1(CC2D2A):c.4407C>G (p.Ser1469Arg) rs587779732 0.00003
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_017777.4(MKS1):c.110A>G (p.Asn37Ser) rs587779734 0.00001
NM_001378615.1(CC2D2A):c.4179+1del rs386833760
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs) rs62640570
NM_025114.4(CEP290):c.4621del (p.Thr1541fs) rs587779733

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