List of variants in gene PPP1R12A reported as pathogenic for Genitourinary and/or brain malformation syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_002480.3(PPP1R12A):c.1189del (p.Thr397fs)	rs1592661703
NM_002480.3(PPP1R12A):c.1510C>T (p.Arg504Ter)	rs1356631664
NM_002480.3(PPP1R12A):c.2033_2034del (p.Glu677_Ser678insTer)	rs1592629980
NM_002480.3(PPP1R12A):c.2187del (p.Glu730fs)	rs2137028448
NM_002480.3(PPP1R12A):c.2533C>T (p.Arg845Ter)	rs2547893717
NM_002480.3(PPP1R12A):c.2604del (p.Glu868fs)	rs2547891962
NM_002480.3(PPP1R12A):c.2698C>T (p.Arg900Ter)	rs868109198
NM_002480.3(PPP1R12A):c.466C>T (p.Gln156Ter)	rs1879250715
NM_002480.3(PPP1R12A):c.965_966insCC (p.Leu323fs)

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