ClinVar Miner

List of variants studied for Cataract 36 by Illumina Laboratory Services, Illumina

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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_014290.3(TDRD7):c.33A>G (p.Leu11=) rs1381532 0.53541
NM_014290.3(TDRD7):c.449T>C (p.Val150Ala) rs2045732 0.53529
NM_014290.3(TDRD7):c.588A>G (p.Gln196=) rs7853578 0.07327
NM_014290.3(TDRD7):c.1923G>A (p.Lys641=) rs41281938 0.04583
NM_014290.3(TDRD7):c.563+14G>A rs13290426 0.02276
NM_014290.3(TDRD7):c.-133C>G rs10982012 0.01887
NM_014290.3(TDRD7):c.912G>A (p.Lys304=) rs78579695 0.00867
NM_014290.3(TDRD7):c.1869A>G (p.Ser623=) rs115297535 0.00820
NM_014290.3(TDRD7):c.1800T>C (p.Cys600=) rs12552100 0.00769
NM_014290.3(TDRD7):c.-83G>C rs373486700 0.00431
NM_014290.3(TDRD7):c.*191G>A rs185806845 0.00279
NM_014290.3(TDRD7):c.-64A>G rs879522205 0.00197
NM_014290.3(TDRD7):c.231C>T (p.Cys77=) rs143579801 0.00124
NM_014290.3(TDRD7):c.1629+7A>G rs151288166 0.00096
NM_014290.3(TDRD7):c.2488C>T (p.Arg830Cys) rs140697341 0.00086
NM_014290.3(TDRD7):c.605A>G (p.His202Arg) rs200603850 0.00052
NM_014290.3(TDRD7):c.189G>C (p.Glu63Asp) rs144477083 0.00046
NM_014290.3(TDRD7):c.-47G>A rs572084541 0.00042
NM_014290.3(TDRD7):c.2079+7C>T rs201253435 0.00035
NM_014290.3(TDRD7):c.2791C>T (p.Pro931Ser) rs146083361 0.00033
NM_014290.3(TDRD7):c.444C>T (p.Asn148=) rs144510531 0.00033
NM_014290.3(TDRD7):c.622A>G (p.Thr208Ala) rs139706467 0.00029
NM_014290.3(TDRD7):c.2665A>G (p.Met889Val) rs149536158 0.00027
NM_014290.3(TDRD7):c.-42G>C rs540892282 0.00026
NM_014290.3(TDRD7):c.391A>G (p.Asn131Asp) rs200841827 0.00017
NM_014290.3(TDRD7):c.579G>A (p.Ala193=) rs75516981 0.00017
NM_014290.3(TDRD7):c.1694C>T (p.Pro565Leu) rs148718632 0.00016
NM_014290.3(TDRD7):c.2267G>A (p.Arg756Gln) rs183885850 0.00015
NM_014290.3(TDRD7):c.3129T>C (p.His1043=) rs371279564 0.00015
NM_014290.3(TDRD7):c.854C>T (p.Thr285Met) rs141457141 0.00013
NM_014290.3(TDRD7):c.2257A>G (p.Ile753Val) rs201436824 0.00012
NM_014290.3(TDRD7):c.2080-15A>G rs372316746 0.00011
NM_014290.3(TDRD7):c.1583C>T (p.Ala528Val) rs374337717 0.00009
NM_014290.3(TDRD7):c.*220T>C rs1006051819 0.00007
NM_014290.3(TDRD7):c.2039G>T (p.Ser680Ile) rs140111735 0.00006
NM_014290.3(TDRD7):c.2251A>C (p.Arg751=) rs1171168935 0.00006
NM_014290.3(TDRD7):c.987G>A (p.Pro329=) rs761704668 0.00006
NM_014290.3(TDRD7):c.1892A>G (p.Asn631Ser) rs376812712 0.00005
NM_014290.3(TDRD7):c.199T>C (p.Ser67Pro) rs148039648 0.00005
NM_014290.3(TDRD7):c.2390A>G (p.Asn797Ser) rs747436777 0.00004
NM_014290.3(TDRD7):c.1950C>T (p.Asp650=) rs769740908 0.00003
NM_014290.3(TDRD7):c.2679G>A (p.Thr893=) rs144693621 0.00003
NM_014290.3(TDRD7):c.54T>C (p.His18=) rs749676206 0.00003
NM_014290.3(TDRD7):c.1032A>G (p.Lys344=) rs111320552 0.00002
NM_014290.3(TDRD7):c.2001C>G (p.Leu667=) rs764337688 0.00002
NM_014290.3(TDRD7):c.2285T>C (p.Ile762Thr) rs746282969 0.00002
NM_014290.3(TDRD7):c.2605A>G (p.Met869Val) rs757817371 0.00002
NM_014290.3(TDRD7):c.-6-3T>C rs747079212 0.00001
NM_014290.3(TDRD7):c.1308G>A (p.Gln436=) rs777608846 0.00001
NM_014290.3(TDRD7):c.1629+11T>C rs757235995 0.00001
NM_014290.3(TDRD7):c.223A>G (p.Met75Val) rs769552442 0.00001
NM_014290.3(TDRD7):c.2955A>G (p.Gly985=) rs201216195 0.00001
NM_014290.3(TDRD7):c.3038G>A (p.Arg1013Gln) rs758400042 0.00001
NM_014290.3(TDRD7):c.582C>A (p.Ser194=) rs772250609 0.00001
NM_014290.3(TDRD7):c.637+13A>G rs370507991 0.00001
NM_014290.3(TDRD7):c.700A>G (p.Met234Val) rs758372213 0.00001
NM_014290.3(TDRD7):c.718C>T (p.Arg240Cys) rs199787418 0.00001
NM_014290.3(TDRD7):c.725A>G (p.Lys242Arg) rs1036293350 0.00001
NM_014290.3(TDRD7):c.838T>C (p.Trp280Arg) rs201246147 0.00001
NM_014290.3(TDRD7):c.-120C>G rs942258191
NM_014290.3(TDRD7):c.-122T>C rs886063212
NM_014290.3(TDRD7):c.-147G>T rs886063211
NM_014290.3(TDRD7):c.1353C>T (p.Asp451=) rs146047308
NM_014290.3(TDRD7):c.1445A>G (p.Tyr482Cys) rs886063213
NM_014290.3(TDRD7):c.1821A>T (p.Glu607Asp) rs1169706990
NM_014290.3(TDRD7):c.207+12A>C rs763703339
NM_014290.3(TDRD7):c.2381C>A (p.Ser794Tyr) rs1829105037
NM_014290.3(TDRD7):c.2491A>G (p.Ser831Gly) rs886063214
NM_014290.3(TDRD7):c.3004A>G (p.Ile1002Val) rs202206922
NM_014290.3(TDRD7):c.3129T>A (p.His1043Gln) rs371279564
NM_014290.3(TDRD7):c.416A>G (p.Asn139Ser) rs1317477843

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