ClinVar Miner

List of variants studied for congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

Included ClinVar conditions (1):
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_005262.3(GFER):c.456-83C>T rs72766615 0.14880
NM_005262.3(GFER):c.189G>C (p.Glu63Asp) rs375792737 0.00138
NM_005262.3(GFER):c.373C>T (p.Gln125Ter) rs771809901 0.00007
NM_005262.3(GFER):c.586C>T (p.Arg196Cys) rs370475970 0.00007
NM_005262.3(GFER):c.581G>A (p.Arg194His) rs121908192 0.00004
NM_005262.3(GFER):c.580C>T (p.Arg194Cys) rs780851934 0.00003
NM_005262.3(GFER):c.566C>G (p.Ser189Ter) rs373135339 0.00002
NM_005262.3(GFER):c.575A>G (p.Asp192Gly) rs1363034255 0.00001
NM_005262.3(GFER):c.199del (p.Arg67fs) rs863224028
NM_005262.3(GFER):c.217del (p.Ala73fs) rs1555486560
NM_005262.3(GFER):c.219del (p.Cys74fs) rs1597063051
NM_005262.3(GFER):c.258+1G>A
NM_005262.3(GFER):c.259-25_259-24del rs1597063303
NM_005262.3(GFER):c.280G>A (p.Asp94Asn) rs1490540568

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