ClinVar Miner

List of variants studied for Meckel syndrome, type 1 by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_001080522.2(CC2D2A):c.2804G>A (p.Arg935Gln) rs187003641
NM_001080522.2(CC2D2A):c.394C>T (p.Arg132Ter) rs377177061
NM_001080522.2(CC2D2A):c.4384T>C (p.Trp1462Arg) rs368720062
NM_001080522.2(CC2D2A):c.4407C>G (p.Ser1469Arg) rs587779732
NM_001165927.1(MKS1):c.1378-1dup rs762668200
NM_001165927.1(MKS1):c.80A>G (p.Asn27Ser) rs587779734
NM_001165927.1(MKS1):c.814C>T (p.Arg272Ter) rs797045706
NM_025114.3(CEP290):c.3175dupA (p.Ile1059Asnfs) rs62640570
NM_025114.3(CEP290):c.3442C>G (p.Leu1148Val) rs372190684
NM_025114.3(CEP290):c.4621del (p.Thr1541Profs) rs587779733
NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_153704.5(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180
NM_153704.5(TMEM67):c.748G>A (p.Gly250Arg) rs587779736

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