List of variants in gene MPLKIP studied for hereditary skin disorder

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_138701.4(MPLKIP):c.277del (p.Ser93fs)	rs587776532	0.00002
NM_138701.4(MPLKIP):c.494G>T (p.Ser165Ile)	rs778910338	0.00002
NM_138701.4(MPLKIP):c.430A>G (p.Met144Val)	rs137853117	0.00001
NM_138701.4(MPLKIP):c.135C>G (p.Tyr45Ter)
NM_138701.4(MPLKIP):c.137_138del (p.Gly46fs)	rs587776531
NM_138701.4(MPLKIP):c.229del (p.Arg77fs)	rs2150561563
NM_138701.4(MPLKIP):c.339+1G>A	rs869312900
NM_138701.4(MPLKIP):c.372del (p.Arg126fs)
NM_138701.4(MPLKIP):c.397delinsGGA (p.Ser133fs)
NM_138701.4(MPLKIP):c.49G>A (p.Gly17Ser)	rs201269559
NM_138701.4(MPLKIP):c.505dup (p.Thr169fs)	rs768342562

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