ClinVar Miner

List of variants reported as likely pathogenic for cataract by Genomics England Pilot Project, Genomics England

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_017541.4(CRYGS):c.77A>G (p.Asp26Gly) rs143507827 0.00018
NM_000394.4(CRYAA):c.61C>T (p.Arg21Trp) rs397515625
NM_001289808.2(CRYAB):c.525del (p.Lys175fs) rs2137378244
NM_004370.6(COL12A1):c.5467G>A (p.Val1823Ile) rs201408175
NM_004431.5(EPHA2):c.2826-9G>A rs886041412
NM_005208.5(CRYBA1):c.626C>G (p.Ser209Trp) rs2153009764
NM_021954.4(GJA3):c.148T>C (p.Ser50Pro) rs2141138396
NM_021954.4(GJA3):c.176C>T (p.Pro59Leu) rs864309691
NM_021954.4(GJA3):c.184G>A (p.Glu62Lys) rs2141138365

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