ClinVar Miner

List of variants studied for Amish lethal microcephaly

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001126121.2(SLC25A19):c.289-26G>A rs4788882 0.99234
NM_001126121.2(SLC25A19):c.339T>C (p.Tyr113=) rs7213318 0.93459
NM_001126121.2(SLC25A19):c.-155T>G rs2291033 0.90349
NM_001126121.2(SLC25A19):c.*2T>C rs1809352 0.87805
NM_001126121.2(SLC25A19):c.*274C>G rs7198 0.53096
NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=) rs4789164 0.52943
NM_001126121.2(SLC25A19):c.*437T>G rs73356384 0.05669
NM_001126121.2(SLC25A19):c.*200G>A rs62622012 0.00766
NM_001126121.2(SLC25A19):c.*96G>C rs143419896 0.00335
NM_001126121.2(SLC25A19):c.*384C>T rs192494814 0.00290
NM_001126121.2(SLC25A19):c.483C>T (p.Ala161=) rs142281464 0.00215
NM_001126121.2(SLC25A19):c.797T>G (p.Met266Arg) rs148372053 0.00204
NM_001126121.2(SLC25A19):c.842T>G (p.Phe281Cys) rs138376525 0.00061
NM_001126121.2(SLC25A19):c.*301C>T rs543638381 0.00051
NM_001126121.2(SLC25A19):c.155G>A (p.Arg52His) rs138954932 0.00044
NM_001126121.2(SLC25A19):c.288+8G>C rs144563813 0.00024
NM_001126121.2(SLC25A19):c.530G>C (p.Gly177Ala) rs119473030 0.00024
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.642T>C (p.Asn214=) rs147091827 0.00015
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.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.775-1G>C rs372041843 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.*113G>C rs780528476
NM_001126121.2(SLC25A19):c.*164G>A rs371154305
NM_001126121.2(SLC25A19):c.*408C>T rs2077766048
NM_001126121.2(SLC25A19):c.-170G>A rs931515557
NM_001126121.2(SLC25A19):c.-173AG[2] rs796850773
NM_001126121.2(SLC25A19):c.246C>T (p.His82=) rs535476833
NM_001126121.2(SLC25A19):c.373G>A (p.Gly125Ser) rs387906944
NM_001126121.2(SLC25A19):c.470C>T (p.Thr157Met) rs554218525
NM_001126121.2(SLC25A19):c.930C>A (p.Phe310Leu) rs886053391
NM_021734.4(SLC25A19):c.-201T>A rs576181366

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