ClinVar Miner

List of variants in gene VPS13A studied for not specified

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Gene type:
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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_033305.3(VPS13A):c.9069A>G (p.Gly3023=) rs3737289 0.40290
NM_033305.3(VPS13A):c.6492T>C (p.Asp2164=) rs7025532 0.18911
NM_033305.3(VPS13A):c.3045G>A (p.Pro1015=) rs11145366 0.10477
NM_033305.3(VPS13A):c.6880-19G>C rs183040221 0.00852
NM_033305.3(VPS13A):c.9370C>A (p.His3124Asn) rs117983287 0.00817
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=) rs117485827 0.00672
NM_033305.3(VPS13A):c.5625A>G (p.Leu1875=) rs146280301 0.00643
NM_033305.3(VPS13A):c.9400-15A>C rs117688596 0.00615
NM_033305.3(VPS13A):c.3645C>A (p.Ala1215=) rs138687767 0.00582
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys) rs149840356 0.00532
NM_033305.3(VPS13A):c.8228A>C (p.Lys2743Thr) rs138308486 0.00517
NM_033305.3(VPS13A):c.9150G>A (p.Pro3050=) rs143089318 0.00488
NM_033305.3(VPS13A):c.2037+8C>A rs41289961 0.00417
NM_033305.3(VPS13A):c.5184T>C (p.Ser1728=) rs73467954 0.00400
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033 0.00397
NM_033305.3(VPS13A):c.2748A>G (p.Glu916=) rs73466090 0.00324
NM_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys) rs41289967 0.00213
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=) rs149037185 0.00199
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr) rs141138349 0.00178
NM_033305.3(VPS13A):c.5292G>T (p.Leu1764=) rs141528779 0.00103
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn) rs117320408 0.00061
NM_033305.3(VPS13A):c.8225A>G (p.His2742Arg) rs145686832 0.00026
NM_033305.3(VPS13A):c.6379-19T>G rs766881111 0.00021
NM_033305.3(VPS13A):c.6541G>A (p.Val2181Ile) rs146158125 0.00017
NM_033305.3(VPS13A):c.1660C>T (p.Leu554Phe) rs147115148 0.00011
NM_033305.3(VPS13A):c.398C>T (p.Pro133Leu) rs202090510 0.00009
NM_033305.3(VPS13A):c.4826C>T (p.Pro1609Leu) rs755454094 0.00006
NM_033305.3(VPS13A):c.9119G>A (p.Arg3040Gln) rs148458576 0.00006
GRCh37/hg19 9q21.2(chr9:79913793-80029790)
NM_033305.3(VPS13A):c.1498G>A (p.Val500Ile) rs776549674
NM_033305.3(VPS13A):c.1596-8dup rs748907586
NM_033305.3(VPS13A):c.385+6_385+15del rs72275336
NM_033305.3(VPS13A):c.9189+2545TGA[10] rs113052866
NM_033305.3(VPS13A):c.9189+2545TGA[12] rs113052866
NM_033305.3(VPS13A):c.9311A>G (p.Gln3104Arg) rs1554681451
NM_033305.3(VPS13A):c.989+28dup rs751974264

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