ClinVar Miner

List of variants reported as benign for Multiple epiphyseal dysplasia type 5

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_002381.5(MATN3):c.447C>T (p.Ala149=) rs28598872 0.46576
NM_002381.5(MATN3):c.615G>A (p.Glu205=) rs28401180 0.46446
NM_002381.5(MATN3):c.*176C>T rs7569975 0.44939
NM_002381.5(MATN3):c.1406-4C>T rs35973216 0.25515
NM_002381.5(MATN3):c.909G>A (p.Thr303=) rs28452699 0.20065
NM_002381.5(MATN3):c.187T>G (p.Ser63Ala) rs3816644 0.01892
NM_002381.5(MATN3):c.754G>A (p.Glu252Lys) rs52826764 0.01868
NM_002381.5(MATN3):c.908C>T (p.Thr303Met) rs77245812 0.01128
NM_002381.5(MATN3):c.62T>G (p.Leu21Arg) rs573907581 0.00445
NM_002381.5(MATN3):c.*759C>T rs190300120 0.00377
NM_002381.5(MATN3):c.1169-10G>A rs149849256 0.00242
NM_002381.5(MATN3):c.792G>A (p.Ala264=) rs201563567 0.00035
NM_002381.5(MATN3):c.354C>T (p.Ala118=) rs192462913 0.00007

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