ClinVar Miner

List of variants studied for Meckel syndrome, type 1 by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_001165927.1(MKS1):c.1018C>G (p.Gln340Glu) rs386834041
NM_001165927.1(MKS1):c.1018C>T (p.Gln340Ter) rs386834041
NM_001165927.1(MKS1):c.1377+2del rs386834042
NM_001165927.1(MKS1):c.1378-34_1378-6del rs386834043
NM_001165927.1(MKS1):c.1420_1423dup (p.Thr475fs) rs386834044
NM_001165927.1(MKS1):c.1460G>A (p.Arg487Lys) rs386834045
NM_001165927.1(MKS1):c.154_160del (p.Thr52fs) rs386834046
NM_001165927.1(MKS1):c.360_361CT[1] (p.Asp120_Ser121insTer) rs386834047
NM_001165927.1(MKS1):c.387G>A (p.Glu129=) rs386834048
NM_001165927.1(MKS1):c.394C>T (p.Gln132Ter) rs386834049
NM_001165927.1(MKS1):c.442C>T (p.Arg148Ter) rs386834050
NM_001165927.1(MKS1):c.485+1G>A rs201933838
NM_001165927.1(MKS1):c.50+282_50+286dup rs386834051
NM_001165927.1(MKS1):c.50+313T>C rs386834052
NM_001165927.1(MKS1):c.928G>A (p.Val310Ile) rs386834053
NM_001165927.1(MKS1):c.994+1G>A rs199874059

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