ClinVar Miner

List of variants in gene VPS37A reported by Breakthrough Genomics, Breakthrough Genomics

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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_152415.3(VPS37A):c.1114-26G>C rs3793427 0.39002
NM_152415.3(VPS37A):c.841+23G>A rs3213601 0.37051
NM_152415.3(VPS37A):c.202T>C (p.Leu68=) rs11555738 0.22377
NM_152415.3(VPS37A):c.1053C>T (p.Asp351=) rs2285269 0.22285
NM_152415.3(VPS37A):c.714-124G>A rs17587086 0.11975
NM_152415.3(VPS37A):c.315+76G>C rs73200948 0.08292
NM_152415.3(VPS37A):c.643-179C>G rs3750251 0.07242
NM_152415.3(VPS37A):c.714-73A>G rs17124302 0.02110
NM_152415.3(VPS37A):c.1114-186T>C rs150872946 0.01477
NM_152415.3(VPS37A):c.316-17T>C rs117165264 0.01240
NM_152415.3(VPS37A):c.616A>T (p.Ile206Phe) rs17502618 0.00682
NM_152415.3(VPS37A):c.1113+151T>C rs137879157 0.00635
NM_152415.3(VPS37A):c.642+141A>G rs116288670 0.00433
NM_152415.3(VPS37A):c.643-50C>T rs188566317 0.00373
NM_152415.3(VPS37A):c.637A>G (p.Ile213Val) rs17687375 0.00252
NM_152415.3(VPS37A):c.125+8G>A rs145945235 0.00216
NM_152415.3(VPS37A):c.714-276G>C rs111756296 0.00161
NM_152415.3(VPS37A):c.648C>A (p.Ser216Arg) rs201069468 0.00001
NM_152415.3(VPS37A):c.*1194+84C>A rs3793428

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