ClinVar Miner

List of variants in gene MEGF8 reported as pathogenic for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001271938.2(MEGF8):c.1255C>T (p.Arg419Ter) rs1222471099 0.00001
NM_001271938.2(MEGF8):c.1342C>T (p.Arg448Ter) rs397514621 0.00001
NM_001271938.2(MEGF8):c.1788+1G>C rs1206116606 0.00001
NM_001271938.2(MEGF8):c.4697G>A (p.Arg1566His) rs397515427 0.00001
NC_000019.10:g.(?_42370701)_(42370831_?)del
NM_001271938.2(MEGF8):c.2971C>T (p.Arg991Ter)
NM_001271938.2(MEGF8):c.3441del (p.Thr1149fs)
NM_001271938.2(MEGF8):c.3577C>T (p.Arg1193Ter)
NM_001271938.2(MEGF8):c.4451_4452delinsGCA (p.Leu1484fs)
NM_001271938.2(MEGF8):c.5073del (p.Phe1692fs) rs1164577355
NM_001271938.2(MEGF8):c.595G>C (p.Gly199Arg) rs2147448693
NM_001271938.2(MEGF8):c.6301C>T (p.Arg2101Ter)
NM_001271938.2(MEGF8):c.7300A>G (p.Ser2434Gly) rs397515428

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