ClinVar Miner

List of variants in gene FIG4 studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_014845.6(FIG4):c.1948+3A>G rs10499054 0.49269
NM_014845.6(FIG4):c.2559G>A (p.Ser853=) rs1127771 0.34581
NM_014845.6(FIG4):c.1961T>C (p.Val654Ala) rs9885672 0.33924
NM_014845.6(FIG4):c.647-18C>A rs2273752 0.33064
NM_014845.6(FIG4):c.1271+32G>A rs9481003 0.16771
NM_014845.6(FIG4):c.2377-19T>C rs72944974 0.05800
NM_014845.6(FIG4):c.1090A>T (p.Met364Leu) rs2295837 0.04647
NM_014845.6(FIG4):c.67-7T>C rs56378532 0.04073
NM_014845.6(FIG4):c.2377-20_2377-19insC rs201752617 0.03507
NM_014845.6(FIG4):c.1242T>C (p.Ile414=) rs61729087 0.00891
NM_014845.6(FIG4):c.447-16G>T rs200890189 0.00618
NM_014845.6(FIG4):c.66+10C>T rs200063827 0.00462
NM_014845.6(FIG4):c.808A>G (p.Thr270Ala) rs61729092 0.00411
NM_014845.6(FIG4):c.*14C>T rs114136062 0.00408
NM_014845.6(FIG4):c.27C>T (p.Ile9=) rs141040807 0.00398
NM_014845.6(FIG4):c.173A>G (p.Tyr58Cys) rs145337669 0.00275
NM_014845.6(FIG4):c.446+9G>A rs190287033 0.00128
NM_014845.6(FIG4):c.627A>G (p.Leu209=) rs140111406 0.00119
NM_014845.6(FIG4):c.1584-8T>A rs199522051 0.00086
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn) rs138048706 0.00029
NM_014845.6(FIG4):c.328A>G (p.Ile110Val) rs140331779 0.00018
NM_014845.6(FIG4):c.1863C>A (p.Thr621=) rs201744761 0.00011
NM_014845.6(FIG4):c.2376+9G>A rs374450869 0.00010
NM_014845.6(FIG4):c.2459+7T>G rs575271308 0.00009
NM_014845.6(FIG4):c.1940A>G (p.Tyr647Cys) rs150301327 0.00008
NM_014845.6(FIG4):c.66+13dup rs755637236 0.00007
NM_014845.6(FIG4):c.1158T>C (p.His386=) rs370557879 0.00004
NM_014845.6(FIG4):c.2080A>G (p.Met694Val) rs143531641 0.00004
NM_014845.6(FIG4):c.2095C>T (p.Arg699Cys) rs764799053 0.00004
NM_014845.6(FIG4):c.2199A>G (p.Glu733=) rs537464083 0.00004
NM_014845.6(FIG4):c.33G>C (p.Ser11=) rs527523781 0.00004
NM_014845.6(FIG4):c.2146C>T (p.Arg716Cys) rs139235893 0.00003
NM_014845.6(FIG4):c.1809G>A (p.Gly603=) rs148280593 0.00002
NM_014845.6(FIG4):c.1949-15C>T rs778444771 0.00002
NM_014845.6(FIG4):c.1272-16T>C rs1554303954 0.00001
NM_014845.6(FIG4):c.1350C>G (p.Arg450=) rs763035100 0.00001
NM_014845.6(FIG4):c.1389-5C>T rs377752443 0.00001
NM_014845.6(FIG4):c.1812A>G (p.Lys604=) rs1399930708 0.00001
NM_014845.6(FIG4):c.2238G>A (p.Pro746=) rs753867543 0.00001
NM_014845.6(FIG4):c.2460-17T>C rs201533992 0.00001
NM_014845.6(FIG4):c.497+14T>G rs756070677 0.00001
NM_014845.6(FIG4):c.719G>C (p.Ser240Thr) rs772586786 0.00001
NM_014845.6(FIG4):c.1751-3del rs1064794667
NM_014845.6(FIG4):c.1770C>T (p.Ser590=) rs1057524489
NM_014845.6(FIG4):c.1835C>T (p.Thr612Ile) rs780595685
NM_014845.6(FIG4):c.1983G>A (p.Val661=) rs1057524662
NM_014845.6(FIG4):c.2097-10C>G rs142482745
NM_014845.6(FIG4):c.2377-10del rs200535694
NM_014845.6(FIG4):c.2377-11_2377-10del rs200535694
NM_014845.6(FIG4):c.2639T>A (p.Ile880Asn) rs746915624
NM_014845.6(FIG4):c.447-17dup rs764540259
NM_014845.6(FIG4):c.447-3dup rs11377100
NM_014845.6(FIG4):c.447-4_447-3dup rs11377100
NM_014845.6(FIG4):c.499T>G (p.Tyr167Asp) rs1337166091

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