List of variants in gene TP53RK studied for Galloway-Mowat syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_033550.4(TP53RK):c.433A>G (p.Thr145Ala)	rs56008408	0.00033
NM_033550.4(TP53RK):c.519C>G (p.Pro173=)	rs141087837	0.00026
NM_033550.4(TP53RK):c.337A>G (p.Met113Val)	rs45570735	0.00022
NM_033550.4(TP53RK):c.544A>G (p.Ile182Val)	rs200921554	0.00006
NM_033550.4(TP53RK):c.727C>T (p.Arg243Cys)	rs553547069	0.00002
NM_033550.4(TP53RK):c.125G>A (p.Gly42Asp)	rs773814837
NM_033550.4(TP53RK):c.179del (p.Lys60fs)	rs1431526147
NM_033550.4(TP53RK):c.185G>A (p.Arg62His)
NM_033550.4(TP53RK):c.193A>C (p.Lys65Gln)	rs1568972559
NM_033550.4(TP53RK):c.242C>G (p.Thr81Arg)	rs1432218739
NM_033550.4(TP53RK):c.309dup (p.Val104fs)	rs2122963096
NM_033550.4(TP53RK):c.598C>G (p.Leu200Val)	rs2063182741
NM_033550.4(TP53RK):c.616G>C (p.Ala206Pro)
NM_033550.4(TP53RK):c.728G>T (p.Arg243Leu)	rs776588426

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