ClinVar Miner

List of variants reported as likely benign for Amish lethal microcephaly

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001126121.2(SLC25A19):c.*96G>C rs143419896 0.00335
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.*301C>T rs543638381 0.00051
NM_001126121.2(SLC25A19):c.288+8G>C rs144563813 0.00024
NM_001126121.2(SLC25A19):c.642T>C (p.Asn214=) rs147091827 0.00015
NM_001126121.2(SLC25A19):c.-173AG[2] rs796850773
NM_021734.4(SLC25A19):c.-201T>A rs576181366

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