ClinVar Miner

List of variants studied for microvillus inclusion disease by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001080467.3(MYO5B):c.1591C>T (p.Arg531Trp) rs374618270 0.00001
NM_001080467.3(MYO5B):c.242A>G (p.His81Arg) rs2144390167
NM_001080467.3(MYO5B):c.297C>G (p.Ile99Met)
NM_001080467.3(MYO5B):c.311-1G>C rs1271807828

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