ClinVar Miner

List of variants in gene MPLKIP studied for autosomal ichthyosis syndrome

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP
MPLKIP, EX1-2DEL
NM_138701.4(MPLKIP):c.137_138del (p.Gly46fs) rs587776531
NM_138701.4(MPLKIP):c.148_152del (p.His50fs) rs878854339
NM_138701.4(MPLKIP):c.277del (p.Ser93fs) rs587776532
NM_138701.4(MPLKIP):c.339+1G>A rs869312900
NM_138701.4(MPLKIP):c.430A>G (p.Met144Val) rs137853117
NM_138701.4(MPLKIP):c.494G>T (p.Ser165Ile) rs778910338
NM_138701.4(MPLKIP):c.49G>A (p.Gly17Ser)
NM_138701.4(MPLKIP):c.505dup (p.Thr169fs) rs768342562

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