ClinVar Miner

List of variants reported as likely benign for Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 by Fulgent Genetics, Fulgent Genetics

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_002334.4(LRP4):c.431-12G>A rs139371503 0.01241
NM_002334.4(LRP4):c.430+15C>T rs199835230 0.00108
NM_002334.4(LRP4):c.4951+13G>C rs367744491 0.00079
NM_002334.4(LRP4):c.1005C>T (p.Asn335=) rs141757569 0.00077
NM_002334.4(LRP4):c.387C>T (p.Cys129=) rs80333596 0.00076
NM_002334.4(LRP4):c.3390G>A (p.Ala1130=) rs144639401 0.00058
NM_002334.4(LRP4):c.677-14T>C rs373597511 0.00053
NM_002334.4(LRP4):c.273C>T (p.Asp91=) rs150401820 0.00025
NM_002334.4(LRP4):c.3384G>A (p.Gly1128=) rs144335505 0.00021
NM_002334.4(LRP4):c.4584-4G>A rs368518969 0.00014
NM_002334.4(LRP4):c.2436T>C (p.Asp812=) rs201159730 0.00013
NM_002334.4(LRP4):c.447C>T (p.Ser149=) rs763246909 0.00012
NM_002334.4(LRP4):c.3267C>T (p.Asp1089=) rs150616375 0.00010
NM_002334.4(LRP4):c.4110C>T (p.Asp1370=) rs143496445 0.00010
NM_002334.4(LRP4):c.1707C>T (p.Tyr569=) rs61748895 0.00009
NM_002334.4(LRP4):c.2216-14C>T rs369714698 0.00009
NM_002334.4(LRP4):c.426G>A (p.Gln142=) rs371955690 0.00007
NM_002334.4(LRP4):c.1048+20G>A rs199512829 0.00006
NM_002334.4(LRP4):c.177C>T (p.Asp59=) rs373625784 0.00006
NM_002334.4(LRP4):c.4812C>T (p.Ile1604=) rs753496184 0.00006
NM_002334.4(LRP4):c.3585C>T (p.Ser1195=) rs148361325 0.00005
NM_002334.4(LRP4):c.4584-15T>C rs777314555 0.00005
NM_002334.4(LRP4):c.5556C>T (p.Ala1852=) rs200514161 0.00005
NM_002334.4(LRP4):c.5088-20C>T rs370004451 0.00004
NM_002334.4(LRP4):c.339C>T (p.Asp113=) rs368971854 0.00003
NM_002334.4(LRP4):c.3939C>T (p.Cys1313=) rs779892727 0.00003
NM_002334.4(LRP4):c.431-8C>T rs150531536 0.00003
NM_002334.4(LRP4):c.1049-6G>C rs775792196 0.00001
NM_002334.4(LRP4):c.1310-7T>A rs1555174059 0.00001
NM_002334.4(LRP4):c.1365A>G (p.Pro455=) rs143481229 0.00001
NM_002334.4(LRP4):c.1815C>T (p.Ile605=) rs776484339 0.00001
NM_002334.4(LRP4):c.2424+13G>A rs374365893 0.00001
NM_002334.4(LRP4):c.3195C>T (p.Asp1065=) rs745991521 0.00001
NM_002334.4(LRP4):c.3278-8C>T rs1941033938 0.00001
NM_002334.4(LRP4):c.200-26TTTTC[2] rs760673637
NM_002334.4(LRP4):c.3004+18C>T rs2306028

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