ClinVar Miner

List of variants in gene SNAP29 studied for autosomal ichthyosis syndrome

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 147
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HGVS dbSNP
NM_004782.4(SNAP29):c.*1061C>T rs557600796
NM_004782.4(SNAP29):c.*1129T>C rs165801
NM_004782.4(SNAP29):c.*1174C>T
NM_004782.4(SNAP29):c.*123G>C rs3171741
NM_004782.4(SNAP29):c.*1315C>G rs41277337
NM_004782.4(SNAP29):c.*138C>T rs375995790
NM_004782.4(SNAP29):c.*1437T>C
NM_004782.4(SNAP29):c.*1438G>A
NM_004782.4(SNAP29):c.*1490T>C rs12168260
NM_004782.4(SNAP29):c.*1519T>C rs165861
NM_004782.4(SNAP29):c.*1543A>C rs9613204
NM_004782.4(SNAP29):c.*1563T>G rs11577
NM_004782.4(SNAP29):c.*1570T>C rs534348201
NM_004782.4(SNAP29):c.*1589T>C rs530035476
NM_004782.4(SNAP29):c.*1667G>A rs370941828
NM_004782.4(SNAP29):c.*1675C>T
NM_004782.4(SNAP29):c.*1789C>A rs756339493
NM_004782.4(SNAP29):c.*1874A>C
NM_004782.4(SNAP29):c.*2028G>A rs563529946
NM_004782.4(SNAP29):c.*2039T>G
NM_004782.4(SNAP29):c.*2052A>T rs74557072
NM_004782.4(SNAP29):c.*2059C>T
NM_004782.4(SNAP29):c.*2105T>G rs5752201
NM_004782.4(SNAP29):c.*210A>C
NM_004782.4(SNAP29):c.*2111G>T rs551094177
NM_004782.4(SNAP29):c.*2121dup rs886057272
NM_004782.4(SNAP29):c.*2143G>A rs370242754
NM_004782.4(SNAP29):c.*2168A>C rs886057273
NM_004782.4(SNAP29):c.*2171T>C
NM_004782.4(SNAP29):c.*2179G>A rs553271593
NM_004782.4(SNAP29):c.*2261G>A rs165744
NM_004782.4(SNAP29):c.*2261G>T rs165744
NM_004782.4(SNAP29):c.*2277C>T
NM_004782.4(SNAP29):c.*2280G>A
NM_004782.4(SNAP29):c.*2304C>T rs886057274
NM_004782.4(SNAP29):c.*2364A>G
NM_004782.4(SNAP29):c.*240C>T rs886057265
NM_004782.4(SNAP29):c.*2411T>C rs139989203
NM_004782.4(SNAP29):c.*2412C>T
NM_004782.4(SNAP29):c.*242G>A
NM_004782.4(SNAP29):c.*2484G>C
NM_004782.4(SNAP29):c.*2501G>A rs112984030
NM_004782.4(SNAP29):c.*2551G>A rs73162856
NM_004782.4(SNAP29):c.*255G>A rs187586025
NM_004782.4(SNAP29):c.*2564dup rs886057275
NM_004782.4(SNAP29):c.*2678T>C
NM_004782.4(SNAP29):c.*267C>T
NM_004782.4(SNAP29):c.*2692C>T rs148419415
NM_004782.4(SNAP29):c.*26T>C
NM_004782.4(SNAP29):c.*2712G>A
NM_004782.4(SNAP29):c.*2738G>A
NM_004782.4(SNAP29):c.*2749A>G
NM_004782.4(SNAP29):c.*2777G>A rs374333957
NM_004782.4(SNAP29):c.*2783C>T rs142566638
NM_004782.4(SNAP29):c.*2791T>C rs187911143
NM_004782.4(SNAP29):c.*2795C>T rs9625042
NM_004782.4(SNAP29):c.*2796G>A
NM_004782.4(SNAP29):c.*2816A>G rs165739
NM_004782.4(SNAP29):c.*2856G>A rs9625044
NM_004782.4(SNAP29):c.*2868A>G
NM_004782.4(SNAP29):c.*2872G>A rs111581119
NM_004782.4(SNAP29):c.*2879C>T rs140626919
NM_004782.4(SNAP29):c.*2892C>T
NM_004782.4(SNAP29):c.*2912G>A rs886057276
NM_004782.4(SNAP29):c.*2937_*2944del rs361606
NM_004782.4(SNAP29):c.*2944A>G
NM_004782.4(SNAP29):c.*2944del rs361606
NM_004782.4(SNAP29):c.*2961T>C rs165715
NM_004782.4(SNAP29):c.*3014C>T
NM_004782.4(SNAP29):c.*3015G>A rs145199625
NM_004782.4(SNAP29):c.*3035C>T rs886057278
NM_004782.4(SNAP29):c.*3107C>T rs886057279
NM_004782.4(SNAP29):c.*3156G>A
NM_004782.4(SNAP29):c.*3171G>A rs886057280
NM_004782.4(SNAP29):c.*3193G>A rs553460221
NM_004782.4(SNAP29):c.*3233A>G
NM_004782.4(SNAP29):c.*3246A>G
NM_004782.4(SNAP29):c.*3252T>G rs376610436
NM_004782.4(SNAP29):c.*3268T>C
NM_004782.4(SNAP29):c.*3283T>G
NM_004782.4(SNAP29):c.*3284G>T
NM_004782.4(SNAP29):c.*3285G>T
NM_004782.4(SNAP29):c.*420A>G rs178077
NM_004782.4(SNAP29):c.*472_*483delinsT rs1555915252
NM_004782.4(SNAP29):c.*477_*478AC[20] rs575240461
NM_004782.4(SNAP29):c.*477_*478AC[21] rs575240461
NM_004782.4(SNAP29):c.*477_*478AC[23] rs575240461
NM_004782.4(SNAP29):c.*477_*478AC[24] rs575240461
NM_004782.4(SNAP29):c.*496C>G
NM_004782.4(SNAP29):c.*505_*522del rs368659383
NM_004782.4(SNAP29):c.*507A>C
NM_004782.4(SNAP29):c.*513_*522del rs771299879
NM_004782.4(SNAP29):c.*515_*522del rs371833796
NM_004782.4(SNAP29):c.*517_*522del rs376990505
NM_004782.4(SNAP29):c.*519A>T rs200263284
NM_004782.4(SNAP29):c.*519_*522del rs747974281
NM_004782.4(SNAP29):c.*521T>A rs361998
NM_004782.4(SNAP29):c.*590T>C
NM_004782.4(SNAP29):c.*614C>G rs192171507
NM_004782.4(SNAP29):c.*61C>G
NM_004782.4(SNAP29):c.*624C>T
NM_004782.4(SNAP29):c.*6G>A
NM_004782.4(SNAP29):c.*740C>T rs79383799
NM_004782.4(SNAP29):c.*755A>G
NM_004782.4(SNAP29):c.*780G>T rs543150102
NM_004782.4(SNAP29):c.*816C>T rs886057271
NM_004782.4(SNAP29):c.*822C>T
NM_004782.4(SNAP29):c.*840G>C rs554942555
NM_004782.4(SNAP29):c.*948G>A
NM_004782.4(SNAP29):c.*991C>A
NM_004782.4(SNAP29):c.-19C>T rs1061063
NM_004782.4(SNAP29):c.-32C>G rs202138036
NM_004782.4(SNAP29):c.-40T>G rs886057263
NM_004782.4(SNAP29):c.-58C>A
NM_004782.4(SNAP29):c.-5G>A rs139884576
NM_004782.4(SNAP29):c.-60G>A
NM_004782.4(SNAP29):c.-68A>T rs117593372
NM_004782.4(SNAP29):c.-70_-69del rs886057262
NM_004782.4(SNAP29):c.-76G>A rs376809644
NM_004782.4(SNAP29):c.-8C>G rs186825747
NM_004782.4(SNAP29):c.-93G>T
NM_004782.4(SNAP29):c.130T>C (p.Tyr44His) rs116644127
NM_004782.4(SNAP29):c.18A>G (p.Lys6=) rs1061064
NM_004782.4(SNAP29):c.199A>G (p.Met67Val)
NM_004782.4(SNAP29):c.223del (p.Val75fs) rs869312906
NM_004782.4(SNAP29):c.234C>G (p.Ser78=) rs144160898
NM_004782.4(SNAP29):c.237+10G>T
NM_004782.4(SNAP29):c.238-12C>T
NM_004782.4(SNAP29):c.240G>A (p.Glu80=) rs528593119
NM_004782.4(SNAP29):c.265G>A (p.Glu89Lys) rs151146863
NM_004782.4(SNAP29):c.354dup (p.Leu119fs) rs751575036
NM_004782.4(SNAP29):c.435-3A>G
NM_004782.4(SNAP29):c.487A>G (p.Ser163Gly) rs116892729
NM_004782.4(SNAP29):c.487dup (p.Ser163fs) rs387907363
NM_004782.4(SNAP29):c.502A>G (p.Arg168Gly) rs886057264
NM_004782.4(SNAP29):c.518C>G (p.Thr173Arg)
NM_004782.4(SNAP29):c.520+14T>C
NM_004782.4(SNAP29):c.550A>G (p.Met184Val) rs770234475
NM_004782.4(SNAP29):c.580C>T (p.His194Tyr) rs766339332
NM_004782.4(SNAP29):c.607G>A (p.Asp203Asn)
NM_004782.4(SNAP29):c.620-4G>A
NM_004782.4(SNAP29):c.620-6C>G
NM_004782.4(SNAP29):c.643C>T (p.Arg215Cys) rs371123997
NM_004782.4(SNAP29):c.697A>G (p.Ile233Val)
NM_004782.4(SNAP29):c.6A>G (p.Ser2=) rs770386845
NM_004782.4(SNAP29):c.72T>A (p.Pro24=) rs149837436
SNAP29, 1-BP DEL, 220G

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