ClinVar Miner

List of variants in gene LZTR1 reported as pathogenic for RASopathy

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_006767.3(LZTR1):c.-38T>A
NM_006767.3(LZTR1):c.1311G>A (p.Trp437Ter) rs770933647
NM_006767.3(LZTR1):c.1407G>A (p.Trp469Ter) rs777243508
NM_006767.3(LZTR1):c.740G>A (p.Ser247Asn) rs797045166
NM_006767.3(LZTR1):c.850C>T (p.Arg284Cys) rs797045165
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283
NM_006767.4(LZTR1):c.1943-256C>T rs761685529
NM_006767.4(LZTR1):c.2220-17C>A
NM_006767.4(LZTR1):c.2264G>A (p.Arg755Gln)
NM_006767.4(LZTR1):c.361C>G (p.His121Asp)
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter)
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686

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