ClinVar Miner

List of variants reported as not provided by Medical Genetics Unit, Ain Shams University Pediatrics Hospital

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ClinVar version:
Total variants: 26
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HGVS dbSNP
NM_000255.4(MMUT):c.-11C>A rs483352790
NM_000255.4(MMUT):c.-13T>A rs483352784
NM_000255.4(MMUT):c.-17T>A rs483352789
NM_000255.4(MMUT):c.-34T>A rs483352796
NM_000255.4(MMUT):c.-34_-33insA rs483352797
NM_000255.4(MMUT):c.-35G>T rs483352795
NM_000255.4(MMUT):c.-37C>A rs483352794
NM_000255.4(MMUT):c.-39-13T>G rs483352791
NM_000255.4(MMUT):c.-39-1_-39insA rs483352792
NM_000255.4(MMUT):c.-39-3T>A rs483352799
NM_000255.4(MMUT):c.-39-3del rs483352801
NM_000255.4(MMUT):c.-39-5del rs483352800
NM_000255.4(MMUT):c.-6T>A rs483352782
NM_000255.4(MMUT):c.15G>A (p.Lys5=) rs483352779
NM_000255.4(MMUT):c.165C>A (p.Asn55Lys) rs483352780
NM_000255.4(MMUT):c.323G>A (p.Arg108His) rs483352778
NM_000255.4(MMUT):c.385+18_385+19insT rs483352803
NM_000255.4(MMUT):c.385+29del rs483352787
NM_000255.4(MMUT):c.385+30A>C rs483352785
NM_000255.4(MMUT):c.385+31del rs483352788
NM_000255.4(MMUT):c.385+33A>C rs483352786
NM_000255.4(MMUT):c.385+34_385+35insC rs483352798
NM_000255.4(MMUT):c.385+43del rs483352802
NM_000255.4(MMUT):c.385+46del rs483352793
NM_000255.4(MMUT):c.385+9T>C rs483352783
NM_000255.4(MMUT):c.7del (p.Arg3fs) rs483352781

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