ClinVar Miner

List of variants in gene PITX2 reported as benign by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_153427.3(PITX2):c.46+8C>G rs199896960 0.01041
NM_153426.3(PITX2):c.46+8_46+9insTT rs571056388 0.01006
NM_000325.6(PITX2):c.63C>T (p.Ala21=) rs61756183 0.00290
NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) rs77144743 0.00264
NM_000325.6(PITX2):c.819G>A (p.Pro273=) rs148191851 0.00135
NM_153426.3(PITX2):c.46+8delinsGTT rs72554074

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