ClinVar Miner

List of variants studied for Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L; Miyoshi muscular dystrophy 3

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_213599.3(ANO5):c.879-18T>C rs7104758 0.05932
NM_213599.3(ANO5):c.616A>G (p.Thr206Ala) rs78266558 0.00877
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu) rs61910685 0.00804
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_213599.3(ANO5):c.1640G>A (p.Arg547Gln) rs139618850 0.00015
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile) rs375014127 0.00015
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00014
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys) rs142073798 0.00014
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser) rs137854526 0.00011
NM_213599.3(ANO5):c.1898+1G>A rs142027093 0.00007
NM_213599.3(ANO5):c.1103C>T (p.Thr368Met) rs760792371 0.00001
NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly) rs137854524 0.00001
NM_213599.3(ANO5):c.139-1del rs868484837 0.00001
NM_213599.3(ANO5):c.148C>T (p.Arg50Ter) rs1168346560 0.00001
NM_213599.3(ANO5):c.1982T>C (p.Leu661Pro) rs1472414854 0.00001
NM_213599.3(ANO5):c.2117G>A (p.Arg706Gln) rs926233739 0.00001
NM_213599.3(ANO5):c.424A>T (p.Thr142Ser) rs757367942 0.00001
NM_213599.3(ANO5):c.1081G>C (p.Asp361His) rs1554929295
NM_213599.3(ANO5):c.1685T>C (p.Leu562Pro) rs772361544
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
NM_213599.3(ANO5):c.2004del (p.Leu669fs) rs886043172
NM_213599.3(ANO5):c.2290_2293dup (p.Tyr765fs)
NM_213599.3(ANO5):c.304_308del (p.Lys102fs) rs776859202
NM_213599.3(ANO5):c.648+5G>C rs752512585
NM_213599.3(ANO5):c.846T>G (p.Tyr282Ter)
NM_213599.3(ANO5):c.989dup (p.Leu330fs) rs398124626
NM_213599.3(ANO5):c.[1520del];[155A>G]

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