ClinVar Miner

List of variants in gene PAX2 reported as not provided by ClinVar Staff, National Center for Biotechnology Information (NCBI)

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000278.5(PAX2):c.909A>C (p.Pro303=) rs1800898 0.40586
NM_000278.5(PAX2):c.798C>T (p.Asn266=) rs1800897 0.12916
NM_000278.5(PAX2):c.932C>T (p.Ala311Val) rs78738655 0.00126
NM_000278.3(PAX2):c.44_46delCAG
NM_000278.5(PAX2):c.115_120del (p.Gln39_Arg40del) rs74676646
NM_000278.5(PAX2):c.59del (p.Val20fs) rs76803183
NM_000278.5(PAX2):c.685C>T (p.Arg229Ter) rs76492282
NM_000278.5(PAX2):c.68del (p.Leu23fs) rs75999420
NM_000278.5(PAX2):c.706C>T (p.Gln236Ter) rs75399846
NM_000278.5(PAX2):c.76dup (p.Val26fs) rs75462234
NM_000278.5(PAX2):c.832del (p.Asp278fs) rs78914041

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