ClinVar Miner

List of variants reported as uncertain significance for Muscular dystrophy, limb-girdle, autosomal recessive 23

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr) rs34505698 0.00066
NM_000426.4(LAMA2):c.8920A>T (p.Thr2974Ser) rs140202046 0.00017
NM_000426.4(LAMA2):c.6322C>T (p.Arg2108Trp) rs139824017 0.00012
NM_000426.4(LAMA2):c.715C>T (p.Arg239Cys) rs145465528 0.00008
NM_000426.4(LAMA2):c.1085G>T (p.Arg362Ile) rs182958473 0.00005
NM_000426.4(LAMA2):c.442C>T (p.Arg148Trp) rs752485547 0.00001
NM_000426.4(LAMA2):c.5072-3C>A rs759155854 0.00001
NM_000426.4(LAMA2):c.1232G>C (p.Cys411Ser) rs2482670059
NM_000426.4(LAMA2):c.2585G>A (p.Cys862Tyr) rs2482291953
NM_000426.4(LAMA2):c.2749+4_2749+15del rs2482293091
NM_000426.4(LAMA2):c.29T>A (p.Leu10His) rs2482366909
NM_000426.4(LAMA2):c.364C>T (p.His122Tyr)
NM_000426.4(LAMA2):c.7753T>C (p.Tyr2585His) rs1784589986
NM_000426.4(LAMA2):c.830C>G (p.Ser277Trp)
NM_000426.4(LAMA2):c.8452C>G (p.Leu2818Val) rs1064795750
NM_000426.4(LAMA2):c.8479T>A (p.Tyr2827Asn) rs2533538679
NM_000426.4(LAMA2):c.[2522G>A;2932G>A]
NM_000426.4(LAMA2):c.[533C>T;8733G>C]

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