ClinVar Miner

List of variants reported as uncertain significance for Amish lethal microcephaly by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_001126121.2(SLC25A19):c.*200G>A rs62622012
NM_001126121.2(SLC25A19):c.135T>A (p.Leu45=) rs373190423
NM_001126121.2(SLC25A19):c.246C>T (p.His82=) rs535476833
NM_001126121.2(SLC25A19):c.324C>G (p.His108Gln) rs146573563
NM_001126121.2(SLC25A19):c.483C>T (p.Ala161=) rs142281464
NM_001126121.2(SLC25A19):c.622C>T (p.Pro208Ser) rs200276538
NM_001126121.2(SLC25A19):c.797T>G (p.Met266Arg) rs148372053
NM_021734.4(SLC25A19):c.*113G>C rs780528476
NM_021734.4(SLC25A19):c.-201T>A rs576181366
NM_021734.4(SLC25A19):c.20A>G (p.Lys7Arg) rs762770947
NM_021734.4(SLC25A19):c.930C>A (p.Phe310Leu) rs886053391

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