ClinVar Miner

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

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001080467.3(MYO5B):c.376A>G (p.Thr126Ala) rs1815930 0.97586
NM_001080467.3(MYO5B):c.1905+28T>C rs1790797 0.72377
NM_001080467.3(MYO5B):c.1668+23C>T rs1787299 0.58697
NM_001080467.3(MYO5B):c.2049G>A (p.Val683=) rs2298628 0.48893
NM_001080467.3(MYO5B):c.1545+11T>C rs17715416 0.33063
NM_001080467.3(MYO5B):c.3163_3165dup (p.Leu1055dup) rs397841722 0.31640
NM_001080467.3(MYO5B):c.3603+33A>G rs3826580 0.23559
NM_001080467.3(MYO5B):c.3591C>T (p.Tyr1197=) rs3826579 0.23556
NM_001080467.3(MYO5B):c.3276+11T>C rs2276176 0.22610
NM_001080467.3(MYO5B):c.2753G>A (p.Arg918His) rs2298624 0.11570
NM_001080467.3(MYO5B):c.756+6T>C rs16951370 0.09148
NM_001080467.3(MYO5B):c.2004-14T>C rs200222654 0.08496
NM_001080467.3(MYO5B):c.3962G>A (p.Gly1321Glu) rs1942418 0.07389
NM_001080467.3(MYO5B):c.921G>T (p.Lys307Asn) rs17659179 0.04692
NM_001080467.3(MYO5B):c.456-10T>C rs62620046 0.04071
NM_001080467.3(MYO5B):c.3396+9T>C rs75971548 0.03854
NM_001080467.3(MYO5B):c.1968C>T (p.Arg656=) rs1627232 0.02764
NM_001080467.3(MYO5B):c.1206C>T (p.Asn402=) rs11082795 0.02361
NM_001080467.3(MYO5B):c.1323-10C>T rs16951326 0.01937
NM_001080467.3(MYO5B):c.28T>G (p.Cys10Gly) rs16951438 0.01776
NM_001080467.3(MYO5B):c.176T>C (p.Leu59Pro) rs78626055 0.01741
NM_001080467.3(MYO5B):c.897G>T (p.Val299=) rs7240377 0.01310
NM_001080467.3(MYO5B):c.145G>C (p.Glu49Gln) rs141998504 0.01150
NM_001080467.3(MYO5B):c.2004-15T>C rs764748524 0.01062
NM_001080467.3(MYO5B):c.1793C>T (p.Pro598Leu) rs75107667 0.00802
NM_001080467.3(MYO5B):c.3432G>A (p.Thr1144=) rs61737443 0.00628
NM_001080467.3(MYO5B):c.4145C>T (p.Thr1382Met) rs145598498 0.00607
NM_001080467.3(MYO5B):c.3363C>T (p.Ile1121=) rs28637129 0.00589
NM_001080467.3(MYO5B):c.886A>G (p.Ile296Val) rs79714279 0.00036
NM_001080467.3(MYO5B):c.2228G>A (p.Arg743His) rs368212890 0.00011
NM_001080467.3(MYO5B):c.2571+14C>T rs200805961 0.00001
NM_001080467.3(MYO5B):c.996C>A (p.Ile332=) rs16951352

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