ClinVar Miner

List of variants studied for Amish lethal microcephaly

Included ClinVar conditions (2):
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Total variants: 21
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HGVS dbSNP
NM_001126121.2(SLC25A19):c.*200G>A rs62622012
NM_001126121.2(SLC25A19):c.*274C>G rs7198
NM_001126121.2(SLC25A19):c.*2T>C rs1809352
NM_001126121.2(SLC25A19):c.*437T>G rs73356384
NM_001126121.2(SLC25A19):c.-155T>G rs2291033
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.339T>C (p.Tyr113=) rs7213318
NM_001126121.2(SLC25A19):c.483C>T (p.Ala161=) rs142281464
NM_001126121.2(SLC25A19):c.530G>C (p.Gly177Ala) rs119473030
NM_001126121.2(SLC25A19):c.590G>T (p.Ser197Ile) rs769399113
NM_001126121.2(SLC25A19):c.622C>T (p.Pro208Ser) rs200276538
NM_001126121.2(SLC25A19):c.797T>G (p.Met266Arg) rs148372053
NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=) rs4789164
NM_021734.4(SLC25A19):c.*113G>C rs780528476
NM_021734.4(SLC25A19):c.-157_-156AG[2] rs796850773
NM_021734.4(SLC25A19):c.-201T>A rs576181366
NM_021734.4(SLC25A19):c.20A>G (p.Lys7Arg) rs762770947
NM_021734.4(SLC25A19):c.73T>G (p.Ser25Ala) rs777474053
NM_021734.4(SLC25A19):c.930C>A (p.Phe310Leu) rs886053391

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