ClinVar Miner

List of variants in gene PAX2 reported as not provided

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Total variants: 12
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HGVS dbSNP
NM_000278.4(PAX2):c.44_46del (p.Pro15_Gly16delinsArg) rs74550754
NM_003990.5(PAX2):c.1001C>T (p.Ala334Val) rs78738655
NM_003990.5(PAX2):c.115_120del (p.Gln39_Arg40del) rs74676646
NM_003990.5(PAX2):c.231_232insCGGCAG (p.Ile78_Lys79insArgGln) rs80356379
NM_003990.5(PAX2):c.59del (p.Val20fs) rs76803183
NM_003990.5(PAX2):c.68del (p.Leu23fs) rs75999420
NM_003990.5(PAX2):c.754C>T (p.Arg252Ter) rs76492282
NM_003990.5(PAX2):c.76dup (p.Val26fs) rs75462234
NM_003990.5(PAX2):c.775C>T (p.Gln259Ter) rs75399846
NM_003990.5(PAX2):c.867C>T (p.Asn289=) rs1800897
NM_003990.5(PAX2):c.901del (p.Asp301fs) rs78914041
NM_003990.5(PAX2):c.978A>C (p.Pro326=) rs1800898

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