ClinVar Miner

List of variants studied for choroideremia by Natera, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000390.4(CHM):c.315-1543T>C rs12835678 0.27812
NM_000390.4(CHM):c.315-1541C>A rs10217834 0.17278
NM_000390.4(CHM):c.351A>G (p.Ala117=) rs10217950 0.17011
NM_000390.4(CHM):c.265A>T (p.Ser89Cys) rs145707160 0.01253
NM_000390.4(CHM):c.1802A>G (p.Asn601Ser) rs145877269 0.00962
NM_000390.4(CHM):c.238C>T (p.Leu80Phe) rs55741408 0.00895
NM_000390.4(CHM):c.1641G>T (p.Leu547=) rs148301015 0.00132
NM_000390.4(CHM):c.825G>A (p.Pro275=) rs145268507 0.00132
NM_000390.4(CHM):c.1620A>G (p.Gln540=) rs140479582 0.00057
NM_000390.4(CHM):c.205G>C (p.Val69Leu) rs145088557 0.00056
NM_000390.4(CHM):c.1244+8T>A rs369829791 0.00053
NM_000390.4(CHM):c.1349+10C>T rs376129971 0.00050
NM_000390.4(CHM):c.29A>G (p.Asp10Gly) rs138374611 0.00042
NM_000390.4(CHM):c.8A>G (p.Asp3Gly) rs149255670 0.00035
NM_000390.4(CHM):c.1380T>C (p.Asp460=) rs138395490 0.00024
NM_000390.4(CHM):c.1255A>G (p.Ile419Val) rs140093046 0.00015
NM_000390.4(CHM):c.1713C>T (p.Asn571=) rs142340268 0.00012
NM_000390.4(CHM):c.1771-4C>T rs376625115 0.00009
NM_000390.4(CHM):c.498G>A (p.Ala166=) rs779055829 0.00006
NM_000390.4(CHM):c.957A>G (p.Thr319=) rs373242750 0.00006
NM_000390.4(CHM):c.10A>G (p.Thr4Ala) rs746300399 0.00004
NM_000390.4(CHM):c.182A>C (p.Glu61Ala) rs372819339 0.00004
NM_000390.4(CHM):c.582A>G (p.Glu194=) rs1444964030 0.00003
NM_000390.4(CHM):c.619A>G (p.Thr207Ala) rs374880482 0.00003
NM_000390.4(CHM):c.1008T>C (p.Ile336=) rs749991144 0.00002
NM_000390.4(CHM):c.1217G>A (p.Cys406Tyr) rs754257889 0.00002
NM_000390.4(CHM):c.352C>G (p.Leu118Val) rs1355442853 0.00002
NM_000390.4(CHM):c.368C>T (p.Ala123Val) rs372532715 0.00002
NM_000390.4(CHM):c.484G>A (p.Asp162Asn) rs755873471 0.00002
NM_000390.4(CHM):c.127T>C (p.Tyr43His) rs780259893 0.00001
NM_000390.4(CHM):c.1574A>G (p.Gln525Arg) rs1309166998 0.00001
NM_000390.4(CHM):c.1648C>G (p.Leu550Val) rs186479811 0.00001
NM_000390.4(CHM):c.1664G>C (p.Arg555Thr) rs143212912 0.00001
NM_000390.4(CHM):c.1782T>C (p.Leu594=) rs781107287 0.00001
NM_000390.4(CHM):c.1893A>G (p.Ile631Met) rs778210722 0.00001
NM_000390.4(CHM):c.1929A>C (p.Thr643=) rs747278560 0.00001
NM_000390.4(CHM):c.502G>C (p.Glu168Gln) rs1023827317 0.00001
NM_000390.4(CHM):c.962A>G (p.Tyr321Cys) rs150754372 0.00001
NM_000390.4(CHM):c.1245-8_1245-6del rs766694606
NM_000390.4(CHM):c.1275G>C (p.Gln425His) rs763252149
NM_000390.4(CHM):c.1511-6del rs775072539
NM_000390.4(CHM):c.1920G>A (p.Lys640=) rs748006115
NM_000390.4(CHM):c.447G>T (p.Met149Ile) rs746057999
NM_000390.4(CHM):c.591T>C (p.Ser197=) rs1429958944
NM_000390.4(CHM):c.5C>T (p.Ala2Val) rs1185313651
NM_000390.4(CHM):c.6G>T (p.Ala2=) rs773939161
NM_000390.4(CHM):c.715C>T (p.Arg239Ter) rs776256380
NM_000390.4(CHM):c.808C>T (p.Arg270Ter) rs527236048
NM_000390.4(CHM):c.926C>T (p.Pro309Leu) rs1930084200

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