ClinVar Miner

List of variants reported as likely benign for cataract 1 multiple types by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_005267.5(GJA8):c.658A>G (p.Asn220Asp) rs138140155 0.00247
NM_005267.5(GJA8):c.893A>G (p.Asn298Ser) rs142376567 0.00163
NM_005267.5(GJA8):c.19C>A (p.Leu7Met) rs150441169 0.00083
NM_005267.5(GJA8):c.439C>T (p.Leu147=) rs145974798 0.00036
NM_005267.5(GJA8):c.477C>T (p.Thr159=) rs782140553 0.00003
NM_005267.5(GJA8):c.933C>T (p.Asp311=) rs587747861 0.00003
NM_005267.5(GJA8):c.117G>A (p.Thr39=)
NM_005267.5(GJA8):c.1272C>T (p.Ser424=) rs2149016663
NM_005267.5(GJA8):c.150C>T (p.Ser50=)
NM_005267.5(GJA8):c.180C>T (p.Gly60=)
NM_005267.5(GJA8):c.264G>C (p.Pro88=) rs1227166611
NM_005267.5(GJA8):c.270G>C (p.Leu90=) rs1651886484
NM_005267.5(GJA8):c.426G>A (p.Arg142=)
NM_005267.5(GJA8):c.528G>T (p.Arg176=)
NM_005267.5(GJA8):c.756C>T (p.Leu252=)
NM_005267.5(GJA8):c.978G>A (p.Val326=)

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