ClinVar Miner

List of variants reported as uncertain significance for Amish lethal microcephaly

Included ClinVar conditions (2):
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001126121.2(SLC25A19):c.*384C>T rs192494814 0.00290
NM_001126121.2(SLC25A19):c.842T>G (p.Phe281Cys) rs138376525 0.00061
NM_001126121.2(SLC25A19):c.155G>A (p.Arg52His) rs138954932 0.00044
NM_001126121.2(SLC25A19):c.622C>T (p.Pro208Ser) rs200276538 0.00023
NM_001126121.2(SLC25A19):c.504C>T (p.Ser168=) rs148474667 0.00016
NM_001126121.2(SLC25A19):c.324C>G (p.His108Gln) rs146573563 0.00010
NM_001126121.2(SLC25A19):c.135T>A (p.Leu45=) rs373190423 0.00006
NM_001126121.2(SLC25A19):c.73T>G (p.Ser25Ala) rs777474053 0.00006
NM_001126121.2(SLC25A19):c.779G>A (p.Arg260Gln) rs200977389 0.00006
NM_001126121.2(SLC25A19):c.93G>A (p.Ala31=) rs143765189 0.00005
NM_001126121.2(SLC25A19):c.20A>G (p.Lys7Arg) rs762770947 0.00003
NM_001126121.2(SLC25A19):c.*292A>G rs1004218259 0.00001
NM_001126121.2(SLC25A19):c.476G>A (p.Arg159His) rs778166940 0.00001
NM_001126121.2(SLC25A19):c.590G>T (p.Ser197Ile) rs769399113 0.00001
NM_001126121.2(SLC25A19):c.*113G>C rs780528476
NM_001126121.2(SLC25A19):c.*408C>T rs2077766048
NM_001126121.2(SLC25A19):c.-170G>A rs931515557
NM_001126121.2(SLC25A19):c.246C>T (p.His82=) rs535476833
NM_001126121.2(SLC25A19):c.930C>A (p.Phe310Leu) rs886053391

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