ClinVar Miner

List of variants in gene PAX2 reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000278.5(PAX2):c.-203A>G rs11190680 0.80096
NM_001304569.2(PAX2):c.26-803A>T rs4341467 0.79915
NM_000278.5(PAX2):c.-659C>A rs4523631 0.79829
NM_000278.5(PAX2):c.-375C>A rs7094977 0.79823
NM_000278.5(PAX2):c.*198T>C rs12098288 0.40624
NM_000278.5(PAX2):c.909A>C (p.Pro303=) rs1800898 0.39521
NM_000278.5(PAX2):c.43+43C>A rs4405241 0.37380
NM_000278.5(PAX2):c.616+326G>A rs4559621 0.30651
NM_000278.5(PAX2):c.496+89C>G rs7901210 0.30583
NM_000278.5(PAX2):c.792+229T>C rs12769518 0.16817
NM_000278.5(PAX2):c.798C>T (p.Asn266=) rs1800897 0.12513
NM_000278.5(PAX2):c.212+300C>T rs12259313 0.12146
NM_000278.5(PAX2):c.44-180T>C rs11190681 0.11535
NM_000278.5(PAX2):c.213-157G>A rs11817070 0.11213
NM_000278.5(PAX2):c.44-228A>C rs57264262 0.08394
NM_000278.5(PAX2):c.1022-43T>C rs2270185 0.07545
NM_000278.5(PAX2):c.792+152T>C rs78118302 0.06825
NM_000278.5(PAX2):c.793-41G>A rs7908832 0.04611
NM_000278.5(PAX2):c.616+5337C>T rs72843858 0.04169
NM_000278.5(PAX2):c.792+162T>A rs56283258 0.02402
NM_000278.5(PAX2):c.*99C>T rs74729230 0.02390
NM_000278.5(PAX2):c.792+9G>A rs79552202 0.00974
NM_000278.5(PAX2):c.360C>T (p.Ala120=) rs41291450 0.00270
NM_000278.5(PAX2):c.*224G>A rs71496530
NM_000278.5(PAX2):c.-160G>T rs148125352
NM_000278.5(PAX2):c.1021+91G>A rs11190717
NM_000278.5(PAX2):c.43+10G>C rs4472867
NM_000278.5(PAX2):c.497-232del rs5787400
NM_000278.5(PAX2):c.920-294AC[18] rs61572589
NM_000278.5(PAX2):c.920-294AC[22] rs61572589
NM_000278.5(PAX2):c.920-294AC[23] rs61572589
NM_000278.5(PAX2):c.920-294AC[24] rs61572589
NM_000278.5(PAX2):c.920-294AC[25] rs61572589
NM_000278.5(PAX2):c.920-294AC[26] rs61572589

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