List of variants reported as likely pathogenic for Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_002585.4(PBX1):c.145C>T (p.Gln49Ter)	rs1571217834
NM_002585.4(PBX1):c.265+1G>A	rs2101688490
NM_002585.4(PBX1):c.277C>T (p.Arg93Ter)
NM_002585.4(PBX1):c.320G>A (p.Arg107Gln)
NM_002585.4(PBX1):c.320G>C (p.Arg107Pro)	rs2102302170
NM_002585.4(PBX1):c.608_619del (p.Ile203_Arg206del)
NM_002585.4(PBX1):c.618dup (p.Lys207fs)	rs1571431063
NM_002585.4(PBX1):c.634C>T (p.Gln212Ter)	rs1668978337
NM_002585.4(PBX1):c.646A>T (p.Lys216Ter)	rs2102319647
NM_002585.4(PBX1):c.701+2T>G
NM_002585.4(PBX1):c.701G>A (p.Arg234Gln)	rs1553248112
NM_002585.4(PBX1):c.703C>T (p.Arg235Trp)	rs1571445295
NM_002585.4(PBX1):c.758A>C (p.Tyr253Ser)
NM_002585.4(PBX1):c.817T>C (p.Cys273Arg)	rs2102336635
NM_002585.4(PBX1):c.818G>A (p.Cys273Tyr)	rs1558020021
NM_002585.4(PBX1):c.836A>G (p.Gln279Arg)	rs1669421181

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