ClinVar Miner

List of variants reported as pathogenic for Noonan syndrome 2

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.1407G>A (p.Trp469Ter) rs777243508 0.00019
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter) rs150419186 0.00010
NM_006767.4(LZTR1):c.1943-256C>T rs761685529 0.00009
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_006767.4(LZTR1):c.-38T>A rs1459786357 0.00001
NM_006767.4(LZTR1):c.1311G>A (p.Trp437Ter) rs770933647 0.00001
NM_006767.4(LZTR1):c.1785+1G>A rs145594158 0.00001
NM_006767.4(LZTR1):c.2220-17C>A rs1249726034 0.00001
NM_006767.4(LZTR1):c.2407-2A>G rs1158550690 0.00001
NM_006767.4(LZTR1):c.993+1G>A rs770368435 0.00001
NM_006767.4(LZTR1):c.1605C>A (p.Tyr535Ter) rs753347937
NM_006767.4(LZTR1):c.1676T>A (p.Leu559Ter)
NM_006767.4(LZTR1):c.2178C>A (p.Tyr726Ter) rs1034395178
NM_006767.4(LZTR1):c.2264G>A (p.Arg755Gln) rs762834512
NM_006767.4(LZTR1):c.27del (p.Gln10fs) rs587777613
NM_006767.4(LZTR1):c.361C>G (p.His121Asp) rs1569154492

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