ClinVar Miner

List of variants in gene LZTR1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.373G>A (p.Val125Ile) rs775434314 0.00007
NM_006767.4(LZTR1):c.2232G>A (p.Ala744=) rs139261473 0.00006
NM_006767.4(LZTR1):c.1394C>T (p.Ala465Val) rs753757778 0.00004
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu) rs1390048261 0.00003
NM_006767.4(LZTR1):c.353G>A (p.Arg118His) rs769001939 0.00002
NM_006767.4(LZTR1):c.1889G>A (p.Arg630Gln) rs781776791 0.00001
NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu) rs587777177 0.00001
GRCh37/hg19 22q11.21(chr22:21336302-21353327)x3
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) rs747430075
NM_006767.4(LZTR1):c.1589C>G (p.Thr530Ser)
NM_006767.4(LZTR1):c.1645G>A (p.Asp549Asn)
NM_006767.4(LZTR1):c.1762C>T (p.Arg588Trp)
NM_006767.4(LZTR1):c.2066C>T (p.Ser689Phe) rs1555928965
NM_006767.4(LZTR1):c.2257AAC[1] (p.Asn754del) rs762525437
NM_006767.4(LZTR1):c.2317G>T (p.Val773Leu)
NM_006767.4(LZTR1):c.2329del (p.Leu777fs)
NM_006767.4(LZTR1):c.2348C>A (p.Thr783Lys)
NM_006767.4(LZTR1):c.347C>T (p.Ala116Val)
NM_006767.4(LZTR1):c.359A>G (p.His120Arg) rs1555927548
NM_006767.4(LZTR1):c.583G>A (p.Gly195Ser)
NM_006767.4(LZTR1):c.773T>C (p.Phe258Ser)

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