ClinVar Miner

List of variants reported as benign for Meckel syndrome, type 1 by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_001080522.2(CC2D2A):c.3183-8T>C rs13121363
NM_001165927.1(MKS1):c.828+9A>G rs3826300
NM_001173990.3(TMEM216):c.*558G>A rs7607
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265
NM_001173990.3(TMEM216):c.432-11_432-10insA rs11382548
NM_001173990.3(TMEM216):c.432-1G>C rs10897158
NM_024809.5(TCTN2):c.*330_*331insACTC rs56918215
NM_024809.5(TCTN2):c.1128T>C (p.Pro376=) rs7966867
NM_025114.3(CEP290):c.2512A>G (p.Lys838Glu) rs11104738
NM_025114.3(CEP290):c.3574-9delT rs10717563
NM_025114.3(CEP290):c.6522+12dupT rs11405846
NM_025114.3(CEP290):c.853-12_853-11insG rs71082425
NM_030578.4(B9D2):c.33A>G (p.Ile11Met) rs2241714
NM_153240.4(NPHP3):c.-69A>G rs13099099
NM_153240.5(NPHP3):c.3125+7dup rs11396595
NM_153240.5(NPHP3):c.3759G>A (p.Leu1253=) rs6794496
NM_153704.5(TMEM67):c.1066-3C>T rs3097427
NM_153704.5(TMEM67):c.1810A>G (p.Ile604Val) rs3134031

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