ClinVar Miner

List of variants studied for cataract 9 multiple types by Invitae

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_000394.4(CRYAA):c.6C>T (p.Asp2=) rs872331 0.60786
NM_000394.4(CRYAA):c.444T>A (p.Thr148=) rs61735857 0.03116
NM_000394.4(CRYAA):c.327C>T (p.Tyr109=) rs79100529 0.01190
NM_000394.4(CRYAA):c.246G>A (p.Pro82=) rs61735856 0.01115
NM_000394.4(CRYAA):c.54C>T (p.Tyr18=) rs61729442 0.00859
NM_000394.4(CRYAA):c.324C>T (p.Gly108=) rs113802426 0.00399
NM_000394.4(CRYAA):c.154C>T (p.Leu52Phe) rs146914780 0.00234
NM_000394.4(CRYAA):c.198C>T (p.Ser66=) rs527765691 0.00024
NM_000394.4(CRYAA):c.189+14C>T rs191516889 0.00021
NM_000394.4(CRYAA):c.335G>A (p.Arg112His) rs200594555 0.00008
NM_000394.4(CRYAA):c.355C>T (p.Arg119Cys) rs369609046 0.00008
NM_000394.4(CRYAA):c.202C>T (p.Arg68Trp) rs376164744 0.00006
NM_000394.4(CRYAA):c.160C>T (p.Arg54Cys) rs397515623 0.00003
NM_000394.4(CRYAA):c.111G>A (p.Leu37=) rs151213687 0.00002
NM_000394.4(CRYAA):c.75G>C (p.Gln25His) rs754701447 0.00002
NM_000394.4(CRYAA):c.145C>T (p.Arg49Cys) rs74315441 0.00001
NM_000394.4(CRYAA):c.508G>A (p.Ala170Thr) rs1227057051 0.00001
NM_000394.4(CRYAA):c.62G>A (p.Arg21Gln) rs397515626 0.00001
NC_000021.8:g.(?_43160998)_(47865240_?)dup
NM_000394.4(CRYAA):c.159C>T (p.Phe53=)
NM_000394.4(CRYAA):c.189+15G>A rs377222721
NM_000394.4(CRYAA):c.190-24_190-10del
NM_000394.4(CRYAA):c.199G>C (p.Asp67His) rs747872625
NM_000394.4(CRYAA):c.213C>T (p.Phe71=)
NM_000394.4(CRYAA):c.225C>T (p.Leu75=)
NM_000394.4(CRYAA):c.249G>A (p.Glu83=)
NM_000394.4(CRYAA):c.291C>T (p.His97=)
NM_000394.4(CRYAA):c.303C>T (p.Asn101=)
NM_000394.4(CRYAA):c.322_327dup (p.Gly108_Tyr109dup) rs2146498671
NM_000394.4(CRYAA):c.346C>T (p.Arg116Cys) rs74315439
NM_000394.4(CRYAA):c.347G>A (p.Arg116His) rs121912973
NM_000394.4(CRYAA):c.34C>T (p.Arg12Cys) rs397515624
NM_000394.4(CRYAA):c.35G>A (p.Arg12His) rs776884812
NM_000394.4(CRYAA):c.440del (p.Gln147fs) rs1114167311
NM_000394.4(CRYAA):c.486G>A (p.Ser162=) rs376490511
NM_000394.4(CRYAA):c.506C>T (p.Ser169Leu)
NM_000394.4(CRYAA):c.50T>C (p.Phe17Ser)
NM_000394.4(CRYAA):c.514T>C (p.Ser172Pro)
NM_000394.4(CRYAA):c.61C>T (p.Arg21Trp) rs397515625

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