List of variants reported as pathogenic for Genitopatellar syndrome by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_012330.3(KAT6B):c.3681_3696del16 (p.Asp1227Glufs)	rs199470469
NM_012330.4(KAT6B):c.3769_3772del (p.Lys1258fs)	rs199470470
NM_012330.4(KAT6B):c.3788_3789del (p.Lys1263fs)	rs199470472
NM_012330.4(KAT6B):c.3802G>T (p.Gly1268Ter)	rs199470473
NM_012330.4(KAT6B):c.3892G>T (p.Gly1298Ter)	rs199470475
NM_012330.4(KAT6B):c.4360_4368delinsAAAAACCAAAA (p.Glu1454fs)	rs199470478

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