ClinVar Miner

List of variants studied for nephronophthisis 7 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_032575.3(GLIS2):c.864T>C (p.Tyr288=) rs669561 0.97986
NM_032575.3(GLIS2):c.1311A>C (p.Ala437=) rs3810817 0.27719
NM_032575.3(GLIS2):c.*614G>A rs653539 0.10219
NM_032575.3(GLIS2):c.1474A>G (p.Thr492Ala) rs8057701 0.06483
NM_032575.3(GLIS2):c.-11G>A rs28449480 0.05644
NM_032575.3(GLIS2):c.*1333C>G rs11544635 0.03314
NM_032575.3(GLIS2):c.*1203C>G rs116981725 0.03086
NM_032575.3(GLIS2):c.223G>T (p.Ala75Ser) rs72766563 0.01854
NM_032575.3(GLIS2):c.*173G>A rs139029261 0.01688
NM_032575.3(GLIS2):c.*232T>G rs114705511 0.01317
NM_032575.3(GLIS2):c.*1130G>A rs7197512 0.01011
NM_032575.3(GLIS2):c.*916G>A rs72766567 0.00935
NM_032575.3(GLIS2):c.1259C>T (p.Pro420Leu) rs75495782 0.00923
NM_032575.3(GLIS2):c.70C>A (p.Arg24=) rs34543395 0.00866
NM_032575.3(GLIS2):c.*278C>T rs116692282 0.00854
NM_032575.3(GLIS2):c.894C>T (p.Pro298=) rs112926217 0.00791
NM_032575.3(GLIS2):c.*874C>G rs147214646 0.00712
NM_032575.3(GLIS2):c.1476G>A (p.Thr492=) rs140403969 0.00608
NM_032575.3(GLIS2):c.*1826C>T rs757541 0.00418
NM_032575.3(GLIS2):c.*399T>G rs189481658 0.00375
NM_032575.3(GLIS2):c.*23G>A rs146555568 0.00319
NM_032575.3(GLIS2):c.*796G>C rs111818339 0.00299
NM_032575.3(GLIS2):c.*1761C>T rs370625022 0.00180
NM_032575.3(GLIS2):c.*1161G>A rs78428657 0.00175
NM_032575.3(GLIS2):c.*1988A>G rs139152543 0.00166
NM_032575.3(GLIS2):c.1011G>A (p.Pro337=) rs200814551 0.00156
NM_032575.3(GLIS2):c.1010C>T (p.Pro337Leu) rs140544340 0.00128
NM_032575.3(GLIS2):c.*1176C>T rs150762287 0.00056
NM_032575.3(GLIS2):c.*2C>T rs144489623 0.00056
NM_032575.3(GLIS2):c.1105G>A (p.Gly369Ser) rs200720013 0.00056
NM_032575.3(GLIS2):c.*437A>C rs533863589 0.00048
NM_032575.3(GLIS2):c.1350G>A (p.Ser450=) rs150464446 0.00046
NM_032575.3(GLIS2):c.*54C>T rs368483996 0.00042
NM_032575.3(GLIS2):c.*762C>T rs573926229 0.00037
NM_032575.3(GLIS2):c.239A>T (p.Asp80Val) rs144447862 0.00036
NM_032575.3(GLIS2):c.*663C>G rs571482423 0.00032
NM_032575.3(GLIS2):c.*1095G>A rs907099780 0.00031
NM_032575.3(GLIS2):c.*43G>A rs184772323 0.00030
NM_032575.3(GLIS2):c.1569G>A (p.Val523=) rs371022001 0.00025
NM_032575.3(GLIS2):c.693C>T (p.Asn231=) rs150071733 0.00025
NM_032575.3(GLIS2):c.1180G>A (p.Gly394Ser) rs775114398 0.00024
NM_032575.3(GLIS2):c.1431C>T (p.Pro477=) rs150810544 0.00023
NM_032575.3(GLIS2):c.*199G>A rs766877335 0.00019
NM_032575.3(GLIS2):c.*1830C>T rs578236633 0.00013
NM_032575.3(GLIS2):c.*12G>A rs201860422 0.00011
NM_032575.3(GLIS2):c.*881C>T rs540618522 0.00011
NM_032575.3(GLIS2):c.505G>A (p.Val169Met) rs144844035 0.00011
NM_032575.3(GLIS2):c.651C>T (p.Asn217=) rs140609747 0.00011
NM_032575.3(GLIS2):c.1326C>T (p.Ala442=) rs767819594 0.00010
NM_032575.3(GLIS2):c.291G>A (p.Ser97=) rs529581775 0.00010
NM_032575.3(GLIS2):c.1177G>A (p.Gly393Arg) rs759416922 0.00009
NM_032575.3(GLIS2):c.476C>T (p.Ser159Leu) rs374332556 0.00007
NM_032575.3(GLIS2):c.*1465G>A rs762692214 0.00006
NM_032575.3(GLIS2):c.*757G>A rs556283047 0.00006
NM_032575.3(GLIS2):c.*856C>T rs886051996 0.00006
NM_032575.3(GLIS2):c.995G>A (p.Arg332His) rs148236093 0.00006
NM_032575.3(GLIS2):c.*1082G>A rs886051999 0.00005
NM_032575.3(GLIS2):c.*551C>G rs886051992 0.00005
NM_032575.3(GLIS2):c.*712C>G rs886051995 0.00005
NM_032575.3(GLIS2):c.*902C>T rs971389433 0.00005
NM_032575.3(GLIS2):c.*1150C>T rs893552507 0.00004
NM_032575.3(GLIS2):c.*1553G>A rs1434276419 0.00004
NM_032575.3(GLIS2):c.1403C>T (p.Thr468Met) rs138285254 0.00004
NM_032575.3(GLIS2):c.546G>A (p.Leu182=) rs182526202 0.00004
NM_032575.3(GLIS2):c.801C>T (p.Tyr267=) rs527861451 0.00004
NM_032575.3(GLIS2):c.*1791T>C rs886052003 0.00003
NM_032575.3(GLIS2):c.*525C>T rs886051991 0.00003
NM_032575.3(GLIS2):c.*632G>A rs886051994 0.00003
NM_032575.3(GLIS2):c.1128C>T (p.Pro376=) rs750906253 0.00003
NM_032575.3(GLIS2):c.1335G>C (p.Glu445Asp) rs761985295 0.00003
NM_032575.3(GLIS2):c.56C>T (p.Ala19Val) rs560306322 0.00003
NM_032575.3(GLIS2):c.903C>T (p.His301=) rs371341058 0.00003
NM_032575.3(GLIS2):c.*516C>T rs982214507 0.00001
NM_032575.3(GLIS2):c.1033G>A (p.Gly345Ser) rs746233571 0.00001
NM_032575.3(GLIS2):c.1510T>C (p.Leu504=) rs568866303 0.00001
NM_032575.3(GLIS2):c.1526T>G (p.Val509Gly) rs745941117 0.00001
NM_032575.3(GLIS2):c.344C>T (p.Ser115Leu) rs771450245 0.00001
NM_032575.3(GLIS2):c.346-4C>G rs990927651 0.00001
NM_032575.3(GLIS2):c.479C>G (p.Pro160Arg) rs747387534 0.00001
NM_032575.3(GLIS2):c.747C>T (p.Asn249=) rs763296256 0.00001
NM_032575.3(GLIS2):c.*1046G>C rs886051998
NM_032575.3(GLIS2):c.*125G>A rs531374169
NM_032575.3(GLIS2):c.*1319A>G rs2053591653
NM_032575.3(GLIS2):c.*1628C>G rs886052001
NM_032575.3(GLIS2):c.*1700G>A rs886052002
NM_032575.3(GLIS2):c.*1710C>A rs977793955
NM_032575.3(GLIS2):c.*1911G>C rs1462021751
NM_032575.3(GLIS2):c.*1931C>G rs960392881
NM_032575.3(GLIS2):c.*1998C>G rs2053602695
NM_032575.3(GLIS2):c.*2021C>T rs2053603023
NM_032575.3(GLIS2):c.*204G>A rs2053573148
NM_032575.3(GLIS2):c.*2058G>A rs2053603535
NM_032575.3(GLIS2):c.*611G>A rs886051993
NM_032575.3(GLIS2):c.*849G>C rs757142602
NM_032575.3(GLIS2):c.1040A>C (p.Tyr347Ser) rs1161017853
NM_032575.3(GLIS2):c.1256C>T (p.Ser419Leu) rs781541345
NM_032575.3(GLIS2):c.127G>A (p.Val43Met) rs886051989
NM_032575.3(GLIS2):c.1355C>A (p.Pro452His) rs776535774
NM_032575.3(GLIS2):c.1413C>G (p.Ser471Arg) rs201182025
NM_032575.3(GLIS2):c.210G>A (p.Glu70=) rs886051990
NM_032575.3(GLIS2):c.523-9C>T rs2053535570

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