ClinVar Miner

List of variants reported as likely benign for Pierson syndrome

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_002292.4(LAMB2):c.3858G>T (p.Val1286=) rs34967349 0.00312
NM_002292.4(LAMB2):c.109C>G (p.Pro37Ala) rs144765752 0.00242
NM_002292.4(LAMB2):c.2307C>T (p.Leu769=) rs147076626 0.00235
NM_002292.4(LAMB2):c.3875A>T (p.Asn1292Ile) rs148246465 0.00175
NM_002292.4(LAMB2):c.5166A>G (p.Gln1722=) rs114485284 0.00173
NM_002292.4(LAMB2):c.510C>T (p.Arg170=) rs149856537 0.00167
NM_002292.4(LAMB2):c.4163G>A (p.Arg1388Gln) rs146522641 0.00159
NM_002292.4(LAMB2):c.1306G>A (p.Gly436Ser) rs142402808 0.00096
NM_002292.4(LAMB2):c.101C>A (p.Ala34Asp) rs202057459 0.00024
NM_002292.4(LAMB2):c.250-14C>T rs371403310 0.00002
NM_002292.4(LAMB2):c.3071C>T (p.Pro1024Leu) rs368506627 0.00001
NM_002292.4(LAMB2):c.4667C>T (p.Ala1556Val) rs774045808 0.00001
NM_002292.4(LAMB2):c.261G>A (p.Lys87=) rs149408554
NM_002292.4(LAMB2):c.310C>T (p.His104Tyr) rs552475229
NM_002292.4(LAMB2):c.5061G>T (p.Thr1687=) rs150465100

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