ClinVar Miner

List of variants reported as uncertain significance for nephronophthisis 7 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_032575.3(GLIS2):c.1105G>A (p.Gly369Ser) rs200720013 0.00056
NM_032575.3(GLIS2):c.505G>A (p.Val169Met) rs144844035 0.00011
NM_032575.3(GLIS2):c.1177G>A (p.Gly393Arg) rs759416922 0.00009
NM_032575.3(GLIS2):c.1273G>A (p.Gly425Arg) rs199849300 0.00009
NM_032575.3(GLIS2):c.476C>T (p.Ser159Leu) rs374332556 0.00007
NM_032575.3(GLIS2):c.995G>A (p.Arg332His) rs148236093 0.00006
NM_032575.3(GLIS2):c.1129G>A (p.Gly377Ser) rs758967813 0.00005
NM_032575.3(GLIS2):c.1244C>T (p.Pro415Leu) rs751855769 0.00004
NM_032575.3(GLIS2):c.1403C>T (p.Thr468Met) rs138285254 0.00004
NM_032575.3(GLIS2):c.1539G>A (p.Pro513=) rs769088578 0.00004
NM_032575.3(GLIS2):c.101G>A (p.Arg34His) rs377037409 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.100C>T (p.Arg34Cys) rs369113794 0.00002
NM_032575.3(GLIS2):c.1559C>T (p.Pro520Leu) rs144263133 0.00002
NM_032575.3(GLIS2):c.1560G>A (p.Pro520=) rs759274279 0.00002
NM_032575.3(GLIS2):c.1564G>A (p.Val522Met) rs901123781 0.00002
NM_032575.3(GLIS2):c.164C>T (p.Pro55Leu) rs775844299 0.00002
NM_032575.3(GLIS2):c.1033G>A (p.Gly345Ser) rs746233571 0.00001
NM_032575.3(GLIS2):c.1388C>T (p.Thr463Met) rs373198635 0.00001
NM_032575.3(GLIS2):c.1526T>G (p.Val509Gly) rs745941117 0.00001
NM_032575.3(GLIS2):c.1000C>G (p.Pro334Ala)
NM_032575.3(GLIS2):c.1004C>G (p.Pro335Arg)
NM_032575.3(GLIS2):c.1027G>A (p.Asp343Asn)
NM_032575.3(GLIS2):c.1038C>G (p.Pro346=)
NM_032575.3(GLIS2):c.1055A>G (p.Gln352Arg)
NM_032575.3(GLIS2):c.1090G>A (p.Gly364Ser)
NM_032575.3(GLIS2):c.1111C>A (p.Pro371Thr)
NM_032575.3(GLIS2):c.113G>A (p.Arg38Lys)
NM_032575.3(GLIS2):c.1186G>A (p.Gly396Arg)
NM_032575.3(GLIS2):c.1226_1227del (p.Leu409fs)
NM_032575.3(GLIS2):c.1255T>C (p.Ser419Pro)
NM_032575.3(GLIS2):c.1256C>T (p.Ser419Leu) rs781541345
NM_032575.3(GLIS2):c.1262T>C (p.Phe421Ser)
NM_032575.3(GLIS2):c.1279G>C (p.Gly427Arg)
NM_032575.3(GLIS2):c.1309G>A (p.Ala437Thr)
NM_032575.3(GLIS2):c.1327G>A (p.Glu443Lys)
NM_032575.3(GLIS2):c.1338G>T (p.Lys446Asn)
NM_032575.3(GLIS2):c.133G>A (p.Asp45Asn)
NM_032575.3(GLIS2):c.1363G>A (p.Ala455Thr)
NM_032575.3(GLIS2):c.1375G>T (p.Glu459Ter)
NM_032575.3(GLIS2):c.1390C>T (p.Pro464Ser)
NM_032575.3(GLIS2):c.1393C>G (p.Leu465Val)
NM_032575.3(GLIS2):c.1403C>A (p.Thr468Lys)
NM_032575.3(GLIS2):c.1412G>A (p.Ser471Asn)
NM_032575.3(GLIS2):c.1414T>C (p.Cys472Arg)
NM_032575.3(GLIS2):c.1420C>T (p.Arg474Trp)
NM_032575.3(GLIS2):c.1421G>A (p.Arg474Gln)
NM_032575.3(GLIS2):c.1429C>T (p.Pro477Ser)
NM_032575.3(GLIS2):c.1432G>A (p.Asp478Asn)
NM_032575.3(GLIS2):c.1441C>G (p.Pro481Ala)
NM_032575.3(GLIS2):c.1467C>A (p.Asp489Glu)
NM_032575.3(GLIS2):c.1475C>A (p.Thr492Lys)
NM_032575.3(GLIS2):c.1475C>T (p.Thr492Met) rs762640275
NM_032575.3(GLIS2):c.1544C>T (p.Ser515Leu)
NM_032575.3(GLIS2):c.161C>G (p.Ser54Cys)
NM_032575.3(GLIS2):c.199G>A (p.Glu67Lys)
NM_032575.3(GLIS2):c.208G>A (p.Glu70Lys)
NM_032575.3(GLIS2):c.275C>T (p.Pro92Leu)
NM_032575.3(GLIS2):c.286A>G (p.Ser96Gly)
NM_032575.3(GLIS2):c.346G>A (p.Asp116Asn)
NM_032575.3(GLIS2):c.365A>G (p.Tyr122Cys)
NM_032575.3(GLIS2):c.410G>T (p.Gly137Val)
NM_032575.3(GLIS2):c.413C>G (p.Ser138Cys)
NM_032575.3(GLIS2):c.415G>C (p.Gly139Arg)
NM_032575.3(GLIS2):c.468G>C (p.Lys156Asn)
NM_032575.3(GLIS2):c.48G>C (p.Lys16Asn)
NM_032575.3(GLIS2):c.545T>C (p.Leu182Pro)
NM_032575.3(GLIS2):c.589G>A (p.Glu197Lys)
NM_032575.3(GLIS2):c.614A>T (p.His205Leu)
NM_032575.3(GLIS2):c.615C>A (p.His205Gln)
NM_032575.3(GLIS2):c.628G>A (p.Ala210Thr)
NM_032575.3(GLIS2):c.692A>C (p.Asn231Thr)
NM_032575.3(GLIS2):c.692A>G (p.Asn231Ser)
NM_032575.3(GLIS2):c.71G>A (p.Arg24Gln)
NM_032575.3(GLIS2):c.774A>G (p.Thr258=)
NM_032575.3(GLIS2):c.776-1G>A
NM_032575.3(GLIS2):c.795C>A (p.Cys265Ter)
NM_032575.3(GLIS2):c.802G>A (p.Glu268Lys)
NM_032575.3(GLIS2):c.80C>A (p.Thr27Lys)
NM_032575.3(GLIS2):c.851C>T (p.Thr284Met)
NM_032575.3(GLIS2):c.854G>A (p.Arg285His)
NM_032575.3(GLIS2):c.85G>T (p.Gly29Cys)
NM_032575.3(GLIS2):c.867G>A (p.Val289=)
NM_032575.3(GLIS2):c.901C>A (p.His301Asn)
NM_032575.3(GLIS2):c.952G>A (p.Gly318Ser)
NM_032575.3(GLIS2):c.953G>A (p.Gly318Asp)
NM_032575.3(GLIS2):c.95G>A (p.Arg32Gln)

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