ClinVar Miner

List of variants in gene MYO5B reported as likely benign for congenital diarrhea

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001080467.3(MYO5B):c.28T>G (p.Cys10Gly) rs16951438 0.01776
NM_001080467.3(MYO5B):c.3432G>A (p.Thr1144=) rs61737443 0.00628
NM_001080467.3(MYO5B):c.2076T>C (p.Ala692=) rs200559863 0.00470
NM_001080467.3(MYO5B):c.2203-7T>C rs151267350 0.00376
NM_001080467.3(MYO5B):c.1057-4A>G rs138582195 0.00231
NM_001080467.3(MYO5B):c.2343G>C (p.Lys781Asn) rs61737448 0.00187
NM_001080467.3(MYO5B):c.3828C>T (p.Leu1276=) rs201760142 0.00175
NM_001080467.3(MYO5B):c.167G>T (p.Arg56Leu) rs138743872 0.00162
NM_001080467.3(MYO5B):c.1031G>A (p.Arg344His) rs189027956 0.00153
NM_001080467.3(MYO5B):c.3031G>A (p.Asp1011Asn) rs201592338 0.00103
NM_001080467.3(MYO5B):c.2415-6C>G rs2298625 0.00041
NM_001080467.3(MYO5B):c.1057-15C>T rs149299559 0.00022
NM_001080467.3(MYO5B):c.2228G>A (p.Arg743His) rs368212890 0.00011
NM_001080467.3(MYO5B):c.2702G>A (p.Arg901Gln) rs199782770 0.00006
NM_001080467.3(MYO5B):c.1322+11C>T rs142044259 0.00003

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