ClinVar Miner

List of variants reported as likely benign for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11

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Total variants: 18
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HGVS dbSNP
NM_152490.5(B3GALNT2):c.102C>G (p.Ala34=) rs1358930332
NM_152490.5(B3GALNT2):c.1089C>T (p.Leu363=) rs1057522976
NM_152490.5(B3GALNT2):c.112+10T>G rs1572574802
NM_152490.5(B3GALNT2):c.113-1376C>T rs1572560402
NM_152490.5(B3GALNT2):c.113-1439dup rs1572560624
NM_152490.5(B3GALNT2):c.1215C>T (p.Pro405=) rs145518904
NM_152490.5(B3GALNT2):c.1311+9_1311+11del rs1572482653
NM_152490.5(B3GALNT2):c.169G>A (p.Val57Met) rs142756842
NM_152490.5(B3GALNT2):c.249A>T (p.Thr83=) rs770930732
NM_152490.5(B3GALNT2):c.276C>T (p.Phe92=) rs114039725
NM_152490.5(B3GALNT2):c.279A>C (p.Ile93=) rs148341787
NM_152490.5(B3GALNT2):c.30G>A (p.Pro10=) rs986453979
NM_152490.5(B3GALNT2):c.321G>A (p.Glu107=) rs291396
NM_152490.5(B3GALNT2):c.369T>C (p.Asn123=) rs149734145
NM_152490.5(B3GALNT2):c.402C>T (p.Asp134=) rs144848710
NM_152490.5(B3GALNT2):c.699T>C (p.Leu233=) rs368068535
NM_152490.5(B3GALNT2):c.81G>T (p.Pro27=) rs766891631
NM_152490.5(B3GALNT2):c.842-4A>G rs750335648

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